Name: rs2274490
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs2274490

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:95381766 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: G>A / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.402514 (133451/331544, ALFA)
G=0.432574 (114498/264690, TOPMED)
G=0.371511 (92576/249188, GnomAD_exome) (+ 25 more)
G=0.436585 (61114/139982, GnomAD)
G=0.380295 (46148/121348, ExAC)
G=0.42280 (33209/78546, PAGE_STUDY)
G=0.29362 (8297/28258, 14KJPN)
G=0.29045 (4868/16760, 8.3KJPN)
G=0.45410 (5906/13006, GO-ESP)
G=0.4090 (2619/6404, 1000G_30x)
G=0.4026 (2016/5008, 1000G)
G=0.4230 (1895/4480, Estonian)
G=0.3347 (980/2928, KOREAN)
G=0.3584 (747/2084, HGDP_Stanford)
G=0.4429 (837/1890, HapMap)
G=0.3188 (584/1832, Korea1K)
G=0.3254 (367/1128, Daghestan)
G=0.404 (403/998, GoNL)
G=0.334 (264/790, PRJEB37584)
G=0.326 (201/616, Vietnamese)
G=0.407 (244/600, NorthernSweden)
G=0.367 (196/534, MGP)
G=0.247 (121/490, SGDP_PRJ)
G=0.391 (119/304, FINRISK)
G=0.426 (92/216, Qatari)
A=0.43 (30/70, Ancient Sardinia)
G=0.27 (14/52, Siberian)
G=0.45 (18/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SORBS1 : Missense Variant
Publications: 3 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	352820	G=0.405136	A=0.594864, T=0.000000	0.167377	0.357106	0.475517	17
European	Sub	302490	G=0.404853	A=0.595147, T=0.000000	0.164911	0.355205	0.479884	2
African	Sub	14598	G=0.54528	A=0.45472, T=0.00000	0.304151	0.213591	0.482258	3
African Others	Sub	546	G=0.590	A=0.410, T=0.000	0.347985	0.168498	0.483516	0
African American	Sub	14052	G=0.54355	A=0.45645, T=0.00000	0.302448	0.215343	0.482209	4
Asian	Sub	3950	G=0.3810	A=0.6190, T=0.0000	0.148861	0.386835	0.464304	0
East Asian	Sub	3174	G=0.3551	A=0.6449, T=0.0000	0.129175	0.41903	0.451796	0
Other Asian	Sub	776	G=0.487	A=0.513, T=0.000	0.229381	0.255155	0.515464	0
Latin American 1	Sub	1488	G=0.4234	A=0.5766, T=0.0000	0.180108	0.333333	0.486559	0
Latin American 2	Sub	7242	G=0.2341	A=0.7659, T=0.0000	0.058547	0.590445	0.351008	1
South Asian	Sub	5226	G=0.3396	A=0.6604, T=0.0000	0.122847	0.443551	0.433601	2
Other	Sub	17826	G=0.38769	A=0.61231, T=0.00000	0.157523	0.382138	0.460339	5

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	331544	G=0.402514	A=0.597486, T=0.000000
Allele Frequency Aggregator	European	Sub	289392	G=0.404887	A=0.595113, T=0.000000
Allele Frequency Aggregator	Other	Sub	15598	G=0.38402	A=0.61598, T=0.00000
Allele Frequency Aggregator	African	Sub	8648	G=0.5417	A=0.4583, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	7242	G=0.2341	A=0.7659, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5226	G=0.3396	A=0.6604, T=0.0000
Allele Frequency Aggregator	Asian	Sub	3950	G=0.3810	A=0.6190, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1488	G=0.4234	A=0.5766, T=0.0000
TopMed	Global	Study-wide	264690	G=0.432574	A=0.567426
gnomAD - Exomes	Global	Study-wide	249188	G=0.371511	A=0.628489
gnomAD - Exomes	European	Sub	134696	G=0.399819	A=0.600181
gnomAD - Exomes	Asian	Sub	48312	G=0.35192	A=0.64808
gnomAD - Exomes	American	Sub	33848	G=0.21747	A=0.78253
gnomAD - Exomes	African	Sub	16202	G=0.55123	A=0.44877
gnomAD - Exomes	Ashkenazi Jewish	Sub	10044	G=0.31770	A=0.68230
gnomAD - Exomes	Other	Sub	6086	G=0.3676	A=0.6324
gnomAD - Genomes	Global	Study-wide	139982	G=0.436585	A=0.563415
gnomAD - Genomes	European	Sub	75846	G=0.40560	A=0.59440
gnomAD - Genomes	African	Sub	41902	G=0.54611	A=0.45389
gnomAD - Genomes	American	Sub	13642	G=0.32268	A=0.67732
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.3078	A=0.6922
gnomAD - Genomes	East Asian	Sub	3124	G=0.3675	A=0.6325
gnomAD - Genomes	Other	Sub	2148	G=0.4171	A=0.5829
ExAC	Global	Study-wide	121348	G=0.380295	A=0.619705
ExAC	Europe	Sub	73322	G=0.39523	A=0.60477
ExAC	Asian	Sub	25150	G=0.35181	A=0.64819
ExAC	American	Sub	11564	G=0.19535	A=0.80465
ExAC	African	Sub	10404	G=0.55046	A=0.44954
ExAC	Other	Sub	908	G=0.369	A=0.631
The PAGE Study	Global	Study-wide	78546	G=0.42280	A=0.57720
The PAGE Study	AfricanAmerican	Sub	32450	G=0.54240	A=0.45760
The PAGE Study	Mexican	Sub	10788	G=0.23211	A=0.76789
The PAGE Study	Asian	Sub	8298	G=0.3134	A=0.6866
The PAGE Study	PuertoRican	Sub	7906	G=0.4160	A=0.5840
The PAGE Study	NativeHawaiian	Sub	4528	G=0.3947	A=0.6053
The PAGE Study	Cuban	Sub	4218	G=0.4194	A=0.5806
The PAGE Study	Dominican	Sub	3820	G=0.4521	A=0.5479
The PAGE Study	CentralAmerican	Sub	2446	G=0.2678	A=0.7322
The PAGE Study	SouthAmerican	Sub	1980	G=0.2535	A=0.7465
The PAGE Study	NativeAmerican	Sub	1256	G=0.3750	A=0.6250
The PAGE Study	SouthAsian	Sub	856	G=0.354	A=0.646
14KJPN	JAPANESE	Study-wide	28258	G=0.29362	A=0.70638
8.3KJPN	JAPANESE	Study-wide	16760	G=0.29045	A=0.70955
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.45410	A=0.54590
GO Exome Sequencing Project	European American	Sub	8600	G=0.4098	A=0.5902
GO Exome Sequencing Project	African American	Sub	4406	G=0.5406	A=0.4594
1000Genomes_30x	Global	Study-wide	6404	G=0.4090	A=0.5910
1000Genomes_30x	African	Sub	1786	G=0.5823	A=0.4177
1000Genomes_30x	Europe	Sub	1266	G=0.4013	A=0.5987
1000Genomes_30x	South Asian	Sub	1202	G=0.3211	A=0.6789
1000Genomes_30x	East Asian	Sub	1170	G=0.3513	A=0.6487
1000Genomes_30x	American	Sub	980	G=0.280	A=0.720
1000Genomes	Global	Study-wide	5008	G=0.4026	A=0.5974
1000Genomes	African	Sub	1322	G=0.5711	A=0.4289
1000Genomes	East Asian	Sub	1008	G=0.3502	A=0.6498
1000Genomes	Europe	Sub	1006	G=0.3976	A=0.6024
1000Genomes	South Asian	Sub	978	G=0.323	A=0.677
1000Genomes	American	Sub	694	G=0.277	A=0.723
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.4230	A=0.5770
KOREAN population from KRGDB	KOREAN	Study-wide	2928	G=0.3347	A=0.6653
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.3584	A=0.6416
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.326	A=0.674
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.316	A=0.684
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.380	A=0.620
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.375	A=0.625
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.574	A=0.426
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.125	A=0.875
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.61	A=0.39
HapMap	Global	Study-wide	1890	G=0.4429	A=0.5571
HapMap	American	Sub	770	G=0.378	A=0.622
HapMap	African	Sub	692	G=0.569	A=0.431
HapMap	Asian	Sub	252	G=0.329	A=0.671
HapMap	Europe	Sub	176	G=0.392	A=0.608
Korean Genome Project	KOREAN	Study-wide	1832	G=0.3188	A=0.6812
Genome-wide autozygosity in Daghestan	Global	Study-wide	1128	G=0.3254	A=0.6746
Genome-wide autozygosity in Daghestan	Daghestan	Sub	624	G=0.288	A=0.712
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	G=0.366	A=0.634
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.393	A=0.607
Genome-wide autozygosity in Daghestan	Europe	Sub	106	G=0.415	A=0.585
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=0.28	A=0.72
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.44	A=0.56
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.404	A=0.596
CNV burdens in cranial meningiomas	Global	Study-wide	790	G=0.334	A=0.666
CNV burdens in cranial meningiomas	CRM	Sub	790	G=0.334	A=0.666
A Vietnamese Genetic Variation Database	Global	Study-wide	616	G=0.326	A=0.674
Northern Sweden	ACPOP	Study-wide	600	G=0.407	A=0.593
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.367	A=0.633
SGDP_PRJ	Global	Study-wide	490	G=0.247	A=0.753
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.391	A=0.609
Qatari	Global	Study-wide	216	G=0.426	A=0.574
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	70	G=0.57	A=0.43
Siberian	Global	Study-wide	52	G=0.27	A=0.73
The Danish reference pan genome	Danish	Study-wide	40	G=0.45	A=0.55

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 10	NC_000010.11:g.95381766G>A
GRCh38.p14 chr 10	NC_000010.11:g.95381766G>T
GRCh37.p13 chr 10	NC_000010.10:g.97141523G>A
GRCh37.p13 chr 10	NC_000010.10:g.97141523G>T
SORBS1 RefSeqGene	NG_034041.1:g.184655C>T
SORBS1 RefSeqGene	NG_034041.1:g.184655C>A

Gene: SORBS1, sorbin and SH3 domain containing 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SORBS1 transcript variant 6	NM_024991.3:c.1065C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 6	NP_079267.2:p.Asp355=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 6	NM_024991.3:c.1065C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 6	NP_079267.2:p.Asp355Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 2	NM_015385.4:c.1338C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 2	NP_056200.2:p.Asp446=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 2	NM_015385.4:c.1338C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 2	NP_056200.2:p.Asp446Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 9	NM_001290295.2:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 9	NP_001277224.2:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 9	NM_001290295.2:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 9	NP_001277224.2:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 8	NM_001290294.2:c.1434C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 8	NP_001277223.2:p.Asp478=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 8	NM_001290294.2:c.1434C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 8	NP_001277223.2:p.Asp478Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 4	NM_001034955.2:c.1638C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 4	NP_001030127.2:p.Asp546=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 4	NM_001034955.2:c.1638C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 4	NP_001030127.2:p.Asp546Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 20	NM_001377204.1:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 20	NP_001364133.1:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 20	NM_001377204.1:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 20	NP_001364133.1:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 10	NM_001290296.2:c.1482C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 10	NP_001277225.2:p.Asp494=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 10	NM_001290296.2:c.1482C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 10	NP_001277225.2:p.Asp494Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 21	NM_001377205.1:c.1113C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 21	NP_001364134.1:p.Asp371=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 21	NM_001377205.1:c.1113C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 21	NP_001364134.1:p.Asp371Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 17	NM_001377201.1:c.1407C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 17	NP_001364130.1:p.Asp469=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 17	NM_001377201.1:c.1407C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 17	NP_001364130.1:p.Asp469Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 5	NM_001034956.2:c.1227C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 5	NP_001030128.2:p.Asp409=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 5	NM_001034956.2:c.1227C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 5	NP_001030128.2:p.Asp409Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 23	NM_001377207.1:c.1044C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 23	NP_001364136.1:p.Asp348=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 23	NM_001377207.1:c.1044C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 23	NP_001364136.1:p.Asp348Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 16	NM_001377200.1:c.1338C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 16	NP_001364129.1:p.Asp446=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 16	NM_001377200.1:c.1338C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 16	NP_001364129.1:p.Asp446Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 18	NM_001377202.1:c.1311C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 18	NP_001364131.1:p.Asp437=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 18	NM_001377202.1:c.1311C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 18	NP_001364131.1:p.Asp437Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 22	NM_001377206.1:c.1065C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 22	NP_001364135.1:p.Asp355=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 22	NM_001377206.1:c.1065C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 22	NP_001364135.1:p.Asp355Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 19	NM_001377203.1:c.1140C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 19	NP_001364132.1:p.Asp380=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 19	NM_001377203.1:c.1140C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 19	NP_001364132.1:p.Asp380Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 14	NM_001377198.1:c.1413C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 14	NP_001364127.1:p.Asp471=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 14	NM_001377198.1:c.1413C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 14	NP_001364127.1:p.Asp471Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 15	NM_001377199.1:c.1434C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 15	NP_001364128.1:p.Asp478=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 15	NM_001377199.1:c.1434C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 15	NP_001364128.1:p.Asp478Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 25	NM_001377209.1:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 25	NP_001364138.1:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 25	NM_001377209.1:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 25	NP_001364138.1:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 13	NM_001377197.1:c.1482C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 13	NP_001364126.1:p.Asp494=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 13	NM_001377197.1:c.1482C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 13	NP_001364126.1:p.Asp494Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 24	NM_001377208.1:c.1140C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 24	NP_001364137.1:p.Asp380=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 24	NM_001377208.1:c.1140C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 24	NP_001364137.1:p.Asp380Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 34	NM_001384455.1:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 11	NP_001371384.1:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 34	NM_001384455.1:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 11	NP_001371384.1:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 31	NM_001384452.1:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 31	NP_001371381.1:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 31	NM_001384452.1:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 31	NP_001371381.1:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 38	NM_001384459.1:c.1332C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 34	NP_001371388.1:p.Asp444=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 38	NM_001384459.1:c.1332C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 34	NP_001371388.1:p.Asp444Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 11	NM_001290297.3:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 11	NP_001277226.2:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 11	NM_001290297.3:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 11	NP_001277226.2:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 44	NM_001384465.1:c.1305C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 40	NP_001371394.1:p.Asp435=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 44	NM_001384465.1:c.1305C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 40	NP_001371394.1:p.Asp435Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 33	NM_001384454.1:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 32	NP_001371383.1:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 33	NM_001384454.1:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 32	NP_001371383.1:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 7	NM_001034957.3:c.942C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 7	NP_001030129.2:p.Asp314=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 7	NM_001034957.3:c.942C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 7	NP_001030129.2:p.Asp314Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 1	NM_006434.4:c.942C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 1	NP_006425.3:p.Asp314=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 1	NM_006434.4:c.942C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 1	NP_006425.3:p.Asp314Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 39	NM_001384460.1:c.1269C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 35	NP_001371389.1:p.Asp423=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 39	NM_001384460.1:c.1269C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 35	NP_001371389.1:p.Asp423Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 29	NM_001384450.1:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 29	NP_001371379.1:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 29	NM_001384450.1:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 29	NP_001371379.1:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 28	NM_001384449.1:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 28	NP_001371378.1:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 28	NM_001384449.1:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 28	NP_001371378.1:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 36	NM_001384457.1:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 11	NP_001371386.1:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 36	NM_001384457.1:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 11	NP_001371386.1:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 12	NM_001290298.3:c.1176C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 12	NP_001277227.2:p.Asp392=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 12	NM_001290298.3:c.1176C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 12	NP_001277227.2:p.Asp392Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 27	NM_001384448.1:c.942C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 27	NP_001371377.1:p.Asp314=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 27	NM_001384448.1:c.942C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 27	NP_001371377.1:p.Asp314Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 26	NM_001384447.1:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 26	NP_001371376.1:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 26	NM_001384447.1:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 26	NP_001371376.1:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 42	NM_001384463.1:c.1194C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 38	NP_001371392.1:p.Asp398=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 42	NM_001384463.1:c.1194C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 38	NP_001371392.1:p.Asp398Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 37	NM_001384458.1:c.1173C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 33	NP_001371387.1:p.Asp391=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 37	NM_001384458.1:c.1173C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 33	NP_001371387.1:p.Asp391Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 40	NM_001384461.1:c.1173C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 36	NP_001371390.1:p.Asp391=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 40	NM_001384461.1:c.1173C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 36	NP_001371390.1:p.Asp391Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 43	NM_001384464.1:c.1098C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 39	NP_001371393.1:p.Asp366=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 43	NM_001384464.1:c.1098C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 39	NP_001371393.1:p.Asp366Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 41	NM_001384462.1:c.1146C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 37	NP_001371391.1:p.Asp382=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 41	NM_001384462.1:c.1146C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 37	NP_001371391.1:p.Asp382Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 35	NM_001384456.1:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 11	NP_001371385.1:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 35	NM_001384456.1:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 11	NP_001371385.1:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 30	NM_001384451.1:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 30	NP_001371380.1:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 30	NM_001384451.1:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 30	NP_001371380.1:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 32	NM_001384453.1:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 32	NP_001371382.1:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 32	NM_001384453.1:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 32	NP_001371382.1:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant 3	NM_001034954.3:c.1572C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 3	NP_001030126.2:p.Asp524=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant 3	NM_001034954.3:c.1572C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform 3	NP_001030126.2:p.Asp524Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X1	XM_011539150.3:c.2151C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X1	XP_011537452.1:p.Asp717=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X1	XM_011539150.3:c.2151C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X1	XP_011537452.1:p.Asp717Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X2	XM_017015501.3:c.2151C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X2	XP_016870990.1:p.Asp717=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X2	XM_017015501.3:c.2151C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X2	XP_016870990.1:p.Asp717Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X3	XM_017015502.3:c.2226C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X3	XP_016870991.1:p.Asp742=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X3	XM_017015502.3:c.2226C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X3	XP_016870991.1:p.Asp742Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X4	XM_017015503.3:c.2151C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X4	XP_016870992.1:p.Asp717=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X4	XM_017015503.3:c.2151C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X4	XP_016870992.1:p.Asp717Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X5	XM_017015505.3:c.2151C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X5	XP_016870994.1:p.Asp717=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X5	XM_017015505.3:c.2151C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X5	XP_016870994.1:p.Asp717Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X6	XM_017015507.3:c.2226C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X6	XP_016870996.1:p.Asp742=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X6	XM_017015507.3:c.2226C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X6	XP_016870996.1:p.Asp742Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X7	XM_047424468.1:c.2151C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X7	XP_047280424.1:p.Asp717=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X7	XM_047424468.1:c.2151C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X7	XP_047280424.1:p.Asp717Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X8	XM_017015510.3:c.2151C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X8	XP_016870999.1:p.Asp717=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X8	XM_017015510.3:c.2151C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X8	XP_016870999.1:p.Asp717Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X9	XM_006717589.3:c.1482C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X9	XP_006717652.1:p.Asp494=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X9	XM_006717589.3:c.1482C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X9	XP_006717652.1:p.Asp494Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X10	XM_017015515.3:c.1509C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X10	XP_016871004.1:p.Asp503=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X10	XM_017015515.3:c.1509C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X10	XP_016871004.1:p.Asp503Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X11	XM_047424469.1:c.1434C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X11	XP_047280425.1:p.Asp478=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X11	XM_047424469.1:c.1434C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X11	XP_047280425.1:p.Asp478Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X12	XM_017015517.3:c.1509C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X12	XP_016871006.1:p.Asp503=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X12	XM_017015517.3:c.1509C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X12	XP_016871006.1:p.Asp503Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X13	XM_047424470.1:c.1386C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X13	XP_047280426.1:p.Asp462=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X13	XM_047424470.1:c.1386C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X13	XP_047280426.1:p.Asp462Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X14	XM_047424471.1:c.1311C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X14	XP_047280427.1:p.Asp437=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X14	XM_047424471.1:c.1311C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X14	XP_047280427.1:p.Asp437Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X15	XM_017015523.2:c.1338C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X15	XP_016871012.1:p.Asp446=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X15	XM_017015523.2:c.1338C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X15	XP_016871012.1:p.Asp446Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X16	XM_017015525.2:c.1044C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X16	XP_016871014.1:p.Asp348=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X16	XM_017015525.2:c.1044C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X16	XP_016871014.1:p.Asp348Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X17	XM_047424472.1:c.1434C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X17	XP_047280428.1:p.Asp478=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X17	XM_047424472.1:c.1434C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X17	XP_047280428.1:p.Asp478Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X18	XM_047424473.1:c.1338C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X18	XP_047280429.1:p.Asp446=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X18	XM_047424473.1:c.1338C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X18	XP_047280429.1:p.Asp446Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X19	XM_047424474.1:c.1407C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X19	XP_047280430.1:p.Asp469=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X19	XM_047424474.1:c.1407C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X19	XP_047280430.1:p.Asp469Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X20	XM_047424475.1:c.1311C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X20	XP_047280431.1:p.Asp437=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X20	XM_047424475.1:c.1311C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X20	XP_047280431.1:p.Asp437Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X21	XM_017015530.3:c.1140C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X21	XP_016871019.1:p.Asp380=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X21	XM_017015530.3:c.1140C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X21	XP_016871019.1:p.Asp380Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X22	XM_017015532.3:c.1038C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X22	XP_016871021.1:p.Asp346=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X22	XM_017015532.3:c.1038C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X22	XP_016871021.1:p.Asp346Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X23	XM_017015533.2:c.1017C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X23	XP_016871022.1:p.Asp339=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X23	XM_017015533.2:c.1017C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X23	XP_016871022.1:p.Asp339Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X24	XM_017015536.2:c.1044C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X24	XP_016871025.1:p.Asp348=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X24	XM_017015536.2:c.1044C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X24	XP_016871025.1:p.Asp348Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X25	XM_017015537.3:c.1038C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X25	XP_016871026.1:p.Asp346=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X25	XM_017015537.3:c.1038C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X25	XP_016871026.1:p.Asp346Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X26	XM_047424476.1:c.1113C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X26	XP_047280432.1:p.Asp371=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X26	XM_047424476.1:c.1113C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X26	XP_047280432.1:p.Asp371Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X27	XM_017015539.2:c.942C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X27	XP_016871028.1:p.Asp314=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X27	XM_017015539.2:c.942C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X27	XP_016871028.1:p.Asp314Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X28	XM_017015540.2:c.1017C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X28	XP_016871029.1:p.Asp339=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X28	XM_017015540.2:c.1017C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X28	XP_016871029.1:p.Asp339Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X29	XM_047424477.1:c.1065C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X29	XP_047280433.1:p.Asp355=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X29	XM_047424477.1:c.1065C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X29	XP_047280433.1:p.Asp355Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X30	XM_047424478.1:c.1038C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X30	XP_047280434.1:p.Asp346=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X30	XM_047424478.1:c.1038C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X30	XP_047280434.1:p.Asp346Glu	D (Asp) > E (Glu)	Missense Variant
SORBS1 transcript variant X31	XM_047424479.1:c.969C>T	D [GAC] > D [GAT]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X31	XP_047280435.1:p.Asp323=	D (Asp) > D (Asp)	Synonymous Variant
SORBS1 transcript variant X31	XM_047424479.1:c.969C>A	D [GAC] > E [GAA]	Coding Sequence Variant
sorbin and SH3 domain-containing protein 1 isoform X31	XP_047280435.1:p.Asp323Glu	D (Asp) > E (Glu)	Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	G=	A	T
GRCh38.p14 chr 10	NC_000010.11:g.95381766=	NC_000010.11:g.95381766G>A	NC_000010.11:g.95381766G>T
GRCh37.p13 chr 10	NC_000010.10:g.97141523=	NC_000010.10:g.97141523G>A	NC_000010.10:g.97141523G>T
SORBS1 RefSeqGene	NG_034041.1:g.184655=	NG_034041.1:g.184655C>T	NG_034041.1:g.184655C>A
SORBS1 transcript variant 2	NM_015385.3:c.1338=	NM_015385.3:c.1338C>T	NM_015385.3:c.1338C>A
SORBS1 transcript variant 2	NM_015385.4:c.1338=	NM_015385.4:c.1338C>T	NM_015385.4:c.1338C>A
SORBS1 transcript variant 2	NM_015385.2:c.1338=	NM_015385.2:c.1338C>T	NM_015385.2:c.1338C>A
SORBS1 transcript variant 6	NM_024991.2:c.1065=	NM_024991.2:c.1065C>T	NM_024991.2:c.1065C>A
SORBS1 transcript variant 6	NM_024991.3:c.1065=	NM_024991.3:c.1065C>T	NM_024991.3:c.1065C>A
SORBS1 transcript variant 6	NM_024991.1:c.1065=	NM_024991.1:c.1065C>T	NM_024991.1:c.1065C>A
SORBS1 transcript variant 1	NM_006434.2:c.942=	NM_006434.2:c.942C>T	NM_006434.2:c.942C>A
SORBS1 transcript variant 1	NM_006434.4:c.942=	NM_006434.4:c.942C>T	NM_006434.4:c.942C>A
SORBS1 transcript variant 1	NM_006434.3:c.942=	NM_006434.3:c.942C>T	NM_006434.3:c.942C>A
SORBS1 transcript variant 8	NM_001290294.1:c.1434=	NM_001290294.1:c.1434C>T	NM_001290294.1:c.1434C>A
SORBS1 transcript variant 8	NM_001290294.2:c.1434=	NM_001290294.2:c.1434C>T	NM_001290294.2:c.1434C>A
SORBS1 transcript variant 3	NM_001034954.1:c.1572=	NM_001034954.1:c.1572C>T	NM_001034954.1:c.1572C>A
SORBS1 transcript variant 3	NM_001034954.3:c.1572=	NM_001034954.3:c.1572C>T	NM_001034954.3:c.1572C>A
SORBS1 transcript variant 3	NM_001034954.2:c.1572=	NM_001034954.2:c.1572C>T	NM_001034954.2:c.1572C>A
SORBS1 transcript variant 4	NM_001034955.1:c.1638=	NM_001034955.1:c.1638C>T	NM_001034955.1:c.1638C>A
SORBS1 transcript variant 4	NM_001034955.2:c.1638=	NM_001034955.2:c.1638C>T	NM_001034955.2:c.1638C>A
SORBS1 transcript variant 10	NM_001290296.1:c.1482=	NM_001290296.1:c.1482C>T	NM_001290296.1:c.1482C>A
SORBS1 transcript variant 10	NM_001290296.2:c.1482=	NM_001290296.2:c.1482C>T	NM_001290296.2:c.1482C>A
SORBS1 transcript variant 5	NM_001034956.1:c.1227=	NM_001034956.1:c.1227C>T	NM_001034956.1:c.1227C>A
SORBS1 transcript variant 5	NM_001034956.2:c.1227=	NM_001034956.2:c.1227C>T	NM_001034956.2:c.1227C>A
SORBS1 transcript variant 12	NM_001290298.1:c.1176=	NM_001290298.1:c.1176C>T	NM_001290298.1:c.1176C>A
SORBS1 transcript variant 12	NM_001290298.3:c.1176=	NM_001290298.3:c.1176C>T	NM_001290298.3:c.1176C>A
SORBS1 transcript variant 12	NM_001290298.2:c.1176=	NM_001290298.2:c.1176C>T	NM_001290298.2:c.1176C>A
SORBS1 transcript variant 9	NM_001290295.1:c.969=	NM_001290295.1:c.969C>T	NM_001290295.1:c.969C>A
SORBS1 transcript variant 9	NM_001290295.2:c.969=	NM_001290295.2:c.969C>T	NM_001290295.2:c.969C>A
SORBS1 transcript variant 11	NM_001290297.1:c.969=	NM_001290297.1:c.969C>T	NM_001290297.1:c.969C>A
SORBS1 transcript variant 11	NM_001290297.3:c.969=	NM_001290297.3:c.969C>T	NM_001290297.3:c.969C>A
SORBS1 transcript variant 11	NM_001290297.2:c.969=	NM_001290297.2:c.969C>T	NM_001290297.2:c.969C>A
SORBS1 transcript variant 7	NM_001034957.1:c.942=	NM_001034957.1:c.942C>T	NM_001034957.1:c.942C>A
SORBS1 transcript variant 7	NM_001034957.3:c.942=	NM_001034957.3:c.942C>T	NM_001034957.3:c.942C>A
SORBS1 transcript variant 7	NM_001034957.2:c.942=	NM_001034957.2:c.942C>T	NM_001034957.2:c.942C>A
SORBS1 transcript variant X1	XM_011539150.3:c.2151=	XM_011539150.3:c.2151C>T	XM_011539150.3:c.2151C>A
SORBS1 transcript variant X2	XM_011539150.2:c.2151=	XM_011539150.2:c.2151C>T	XM_011539150.2:c.2151C>A
SORBS1 transcript variant X2	XM_011539150.1:c.2151=	XM_011539150.1:c.2151C>T	XM_011539150.1:c.2151C>A
SORBS1 transcript variant X2	XM_017015501.3:c.2151=	XM_017015501.3:c.2151C>T	XM_017015501.3:c.2151C>A
SORBS1 transcript variant X6	XM_017015501.2:c.2151=	XM_017015501.2:c.2151C>T	XM_017015501.2:c.2151C>A
SORBS1 transcript variant X5	XM_017015501.1:c.2151=	XM_017015501.1:c.2151C>T	XM_017015501.1:c.2151C>A
SORBS1 transcript variant X3	XM_017015502.3:c.2226=	XM_017015502.3:c.2226C>T	XM_017015502.3:c.2226C>A
SORBS1 transcript variant X7	XM_017015502.2:c.2226=	XM_017015502.2:c.2226C>T	XM_017015502.2:c.2226C>A
SORBS1 transcript variant X6	XM_017015502.1:c.2226=	XM_017015502.1:c.2226C>T	XM_017015502.1:c.2226C>A
SORBS1 transcript variant X4	XM_017015503.3:c.2151=	XM_017015503.3:c.2151C>T	XM_017015503.3:c.2151C>A
SORBS1 transcript variant X9	XM_017015503.2:c.2151=	XM_017015503.2:c.2151C>T	XM_017015503.2:c.2151C>A
SORBS1 transcript variant X7	XM_017015503.1:c.2151=	XM_017015503.1:c.2151C>T	XM_017015503.1:c.2151C>A
SORBS1 transcript variant X5	XM_017015505.3:c.2151=	XM_017015505.3:c.2151C>T	XM_017015505.3:c.2151C>A
SORBS1 transcript variant X11	XM_017015505.2:c.2151=	XM_017015505.2:c.2151C>T	XM_017015505.2:c.2151C>A
SORBS1 transcript variant X9	XM_017015505.1:c.2151=	XM_017015505.1:c.2151C>T	XM_017015505.1:c.2151C>A
SORBS1 transcript variant X6	XM_017015507.3:c.2226=	XM_017015507.3:c.2226C>T	XM_017015507.3:c.2226C>A
SORBS1 transcript variant X14	XM_017015507.2:c.2226=	XM_017015507.2:c.2226C>T	XM_017015507.2:c.2226C>A
SORBS1 transcript variant X12	XM_017015507.1:c.2226=	XM_017015507.1:c.2226C>T	XM_017015507.1:c.2226C>A
SORBS1 transcript variant X8	XM_017015510.3:c.2151=	XM_017015510.3:c.2151C>T	XM_017015510.3:c.2151C>A
SORBS1 transcript variant X17	XM_017015510.2:c.2151=	XM_017015510.2:c.2151C>T	XM_017015510.2:c.2151C>A
SORBS1 transcript variant X15	XM_017015510.1:c.2151=	XM_017015510.1:c.2151C>T	XM_017015510.1:c.2151C>A
SORBS1 transcript variant X9	XM_006717589.3:c.1482=	XM_006717589.3:c.1482C>T	XM_006717589.3:c.1482C>A
SORBS1 transcript variant X22	XM_006717589.2:c.1482=	XM_006717589.2:c.1482C>T	XM_006717589.2:c.1482C>A
SORBS1 transcript variant X20	XM_006717589.1:c.1482=	XM_006717589.1:c.1482C>T	XM_006717589.1:c.1482C>A
SORBS1 transcript variant X10	XM_017015515.3:c.1509=	XM_017015515.3:c.1509C>T	XM_017015515.3:c.1509C>A
SORBS1 transcript variant X23	XM_017015515.2:c.1509=	XM_017015515.2:c.1509C>T	XM_017015515.2:c.1509C>A
SORBS1 transcript variant X21	XM_017015515.1:c.1509=	XM_017015515.1:c.1509C>T	XM_017015515.1:c.1509C>A
SORBS1 transcript variant X12	XM_017015517.3:c.1509=	XM_017015517.3:c.1509C>T	XM_017015517.3:c.1509C>A
SORBS1 transcript variant X25	XM_017015517.2:c.1509=	XM_017015517.2:c.1509C>T	XM_017015517.2:c.1509C>A
SORBS1 transcript variant X23	XM_017015517.1:c.1509=	XM_017015517.1:c.1509C>T	XM_017015517.1:c.1509C>A
SORBS1 transcript variant X21	XM_017015530.3:c.1140=	XM_017015530.3:c.1140C>T	XM_017015530.3:c.1140C>A
SORBS1 transcript variant X37	XM_017015530.2:c.1140=	XM_017015530.2:c.1140C>T	XM_017015530.2:c.1140C>A
SORBS1 transcript variant X36	XM_017015530.1:c.1140=	XM_017015530.1:c.1140C>T	XM_017015530.1:c.1140C>A
SORBS1 transcript variant X22	XM_017015532.3:c.1038=	XM_017015532.3:c.1038C>T	XM_017015532.3:c.1038C>A
SORBS1 transcript variant X39	XM_017015532.2:c.1038=	XM_017015532.2:c.1038C>T	XM_017015532.2:c.1038C>A
SORBS1 transcript variant X38	XM_017015532.1:c.1038=	XM_017015532.1:c.1038C>T	XM_017015532.1:c.1038C>A
SORBS1 transcript variant X25	XM_017015537.3:c.1038=	XM_017015537.3:c.1038C>T	XM_017015537.3:c.1038C>A
SORBS1 transcript variant X44	XM_017015537.2:c.1038=	XM_017015537.2:c.1038C>T	XM_017015537.2:c.1038C>A
SORBS1 transcript variant X43	XM_017015537.1:c.1038=	XM_017015537.1:c.1038C>T	XM_017015537.1:c.1038C>A
SORBS1 transcript variant X15	XM_017015523.2:c.1338=	XM_017015523.2:c.1338C>T	XM_017015523.2:c.1338C>A
SORBS1 transcript variant X30	XM_017015523.1:c.1338=	XM_017015523.1:c.1338C>T	XM_017015523.1:c.1338C>A
SORBS1 transcript variant X16	XM_017015525.2:c.1044=	XM_017015525.2:c.1044C>T	XM_017015525.2:c.1044C>A
SORBS1 transcript variant X32	XM_017015525.1:c.1044=	XM_017015525.1:c.1044C>T	XM_017015525.1:c.1044C>A
SORBS1 transcript variant X23	XM_017015533.2:c.1017=	XM_017015533.2:c.1017C>T	XM_017015533.2:c.1017C>A
SORBS1 transcript variant X40	XM_017015533.1:c.1017=	XM_017015533.1:c.1017C>T	XM_017015533.1:c.1017C>A
SORBS1 transcript variant X24	XM_017015536.2:c.1044=	XM_017015536.2:c.1044C>T	XM_017015536.2:c.1044C>A
SORBS1 transcript variant X43	XM_017015536.1:c.1044=	XM_017015536.1:c.1044C>T	XM_017015536.1:c.1044C>A
SORBS1 transcript variant X27	XM_017015539.2:c.942=	XM_017015539.2:c.942C>T	XM_017015539.2:c.942C>A
SORBS1 transcript variant X45	XM_017015539.1:c.942=	XM_017015539.1:c.942C>T	XM_017015539.1:c.942C>A
SORBS1 transcript variant X28	XM_017015540.2:c.1017=	XM_017015540.2:c.1017C>T	XM_017015540.2:c.1017C>A
SORBS1 transcript variant X46	XM_017015540.1:c.1017=	XM_017015540.1:c.1017C>T	XM_017015540.1:c.1017C>A
SORBS1 transcript variant 31	NM_001384452.1:c.969=	NM_001384452.1:c.969C>T	NM_001384452.1:c.969C>A
SORBS1 transcript variant 27	NM_001384448.1:c.942=	NM_001384448.1:c.942C>T	NM_001384448.1:c.942C>A
SORBS1 transcript variant 26	NM_001384447.1:c.969=	NM_001384447.1:c.969C>T	NM_001384447.1:c.969C>A
SORBS1 transcript variant 28	NM_001384449.1:c.969=	NM_001384449.1:c.969C>T	NM_001384449.1:c.969C>A
SORBS1 transcript variant 29	NM_001384450.1:c.969=	NM_001384450.1:c.969C>T	NM_001384450.1:c.969C>A
SORBS1 transcript variant 33	NM_001384454.1:c.969=	NM_001384454.1:c.969C>T	NM_001384454.1:c.969C>A
SORBS1 transcript variant 32	NM_001384453.1:c.969=	NM_001384453.1:c.969C>T	NM_001384453.1:c.969C>A
SORBS1 transcript variant 30	NM_001384451.1:c.969=	NM_001384451.1:c.969C>T	NM_001384451.1:c.969C>A
SORBS1 transcript variant X7	XM_047424468.1:c.2151=	XM_047424468.1:c.2151C>T	XM_047424468.1:c.2151C>A
SORBS1 transcript variant 13	NM_001377197.1:c.1482=	NM_001377197.1:c.1482C>T	NM_001377197.1:c.1482C>A
SORBS1 transcript variant X11	XM_047424469.1:c.1434=	XM_047424469.1:c.1434C>T	XM_047424469.1:c.1434C>A
SORBS1 transcript variant 14	NM_001377198.1:c.1413=	NM_001377198.1:c.1413C>T	NM_001377198.1:c.1413C>A
SORBS1 transcript variant X13	XM_047424470.1:c.1386=	XM_047424470.1:c.1386C>T	XM_047424470.1:c.1386C>A
SORBS1 transcript variant 15	NM_001377199.1:c.1434=	NM_001377199.1:c.1434C>T	NM_001377199.1:c.1434C>A
SORBS1 transcript variant 37	NM_001384458.1:c.1173=	NM_001384458.1:c.1173C>T	NM_001384458.1:c.1173C>A
SORBS1 transcript variant 16	NM_001377200.1:c.1338=	NM_001377200.1:c.1338C>T	NM_001377200.1:c.1338C>A
SORBS1 transcript variant 38	NM_001384459.1:c.1332=	NM_001384459.1:c.1332C>T	NM_001384459.1:c.1332C>A
SORBS1 transcript variant 17	NM_001377201.1:c.1407=	NM_001377201.1:c.1407C>T	NM_001377201.1:c.1407C>A
SORBS1 transcript variant 35	NM_001384456.1:c.969=	NM_001384456.1:c.969C>T	NM_001384456.1:c.969C>A
SORBS1 transcript variant X14	XM_047424471.1:c.1311=	XM_047424471.1:c.1311C>T	XM_047424471.1:c.1311C>A
SORBS1 transcript variant 39	NM_001384460.1:c.1269=	NM_001384460.1:c.1269C>T	NM_001384460.1:c.1269C>A
SORBS1 transcript variant 18	NM_001377202.1:c.1311=	NM_001377202.1:c.1311C>T	NM_001377202.1:c.1311C>A
SORBS1 transcript variant 36	NM_001384457.1:c.969=	NM_001384457.1:c.969C>T	NM_001384457.1:c.969C>A
SORBS1 transcript variant X17	XM_047424472.1:c.1434=	XM_047424472.1:c.1434C>T	XM_047424472.1:c.1434C>A
SORBS1 transcript variant 40	NM_001384461.1:c.1173=	NM_001384461.1:c.1173C>T	NM_001384461.1:c.1173C>A
SORBS1 transcript variant X18	XM_047424473.1:c.1338=	XM_047424473.1:c.1338C>T	XM_047424473.1:c.1338C>A
SORBS1 transcript variant X19	XM_047424474.1:c.1407=	XM_047424474.1:c.1407C>T	XM_047424474.1:c.1407C>A
SORBS1 transcript variant 41	NM_001384462.1:c.1146=	NM_001384462.1:c.1146C>T	NM_001384462.1:c.1146C>A
SORBS1 transcript variant 19	NM_001377203.1:c.1140=	NM_001377203.1:c.1140C>T	NM_001377203.1:c.1140C>A
SORBS1 transcript variant 44	NM_001384465.1:c.1305=	NM_001384465.1:c.1305C>T	NM_001384465.1:c.1305C>A
SORBS1 transcript variant 20	NM_001377204.1:c.969=	NM_001377204.1:c.969C>T	NM_001377204.1:c.969C>A
SORBS1 transcript variant 21	NM_001377205.1:c.1113=	NM_001377205.1:c.1113C>T	NM_001377205.1:c.1113C>A
SORBS1 transcript variant 22	NM_001377206.1:c.1065=	NM_001377206.1:c.1065C>T	NM_001377206.1:c.1065C>A
SORBS1 transcript variant 42	NM_001384463.1:c.1194=	NM_001384463.1:c.1194C>T	NM_001384463.1:c.1194C>A
SORBS1 transcript variant X20	XM_047424475.1:c.1311=	XM_047424475.1:c.1311C>T	XM_047424475.1:c.1311C>A
SORBS1 transcript variant 23	NM_001377207.1:c.1044=	NM_001377207.1:c.1044C>T	NM_001377207.1:c.1044C>A
SORBS1 transcript variant 34	NM_001384455.1:c.969=	NM_001384455.1:c.969C>T	NM_001384455.1:c.969C>A
SORBS1 transcript variant 24	NM_001377208.1:c.1140=	NM_001377208.1:c.1140C>T	NM_001377208.1:c.1140C>A
SORBS1 transcript variant 25	NM_001377209.1:c.969=	NM_001377209.1:c.969C>T	NM_001377209.1:c.969C>A
SORBS1 transcript variant X26	XM_047424476.1:c.1113=	XM_047424476.1:c.1113C>T	XM_047424476.1:c.1113C>A
SORBS1 transcript variant 43	NM_001384464.1:c.1098=	NM_001384464.1:c.1098C>T	NM_001384464.1:c.1098C>A
SORBS1 transcript variant X29	XM_047424477.1:c.1065=	XM_047424477.1:c.1065C>T	XM_047424477.1:c.1065C>A
SORBS1 transcript variant X30	XM_047424478.1:c.1038=	XM_047424478.1:c.1038C>T	XM_047424478.1:c.1038C>A
SORBS1 transcript variant X31	XM_047424479.1:c.969=	XM_047424479.1:c.969C>T	XM_047424479.1:c.969C>A
sorbin and SH3 domain-containing protein 1 isoform 2	NP_056200.2:p.Asp446=	NP_056200.2:p.Asp446=	NP_056200.2:p.Asp446Glu
sorbin and SH3 domain-containing protein 1 isoform 6	NP_079267.2:p.Asp355=	NP_079267.2:p.Asp355=	NP_079267.2:p.Asp355Glu
sorbin and SH3 domain-containing protein 1 isoform 1	NP_006425.3:p.Asp314=	NP_006425.3:p.Asp314=	NP_006425.3:p.Asp314Glu
sorbin and SH3 domain-containing protein 1 isoform 8	NP_001277223.2:p.Asp478=	NP_001277223.2:p.Asp478=	NP_001277223.2:p.Asp478Glu
sorbin and SH3 domain-containing protein 1 isoform 3	NP_001030126.2:p.Asp524=	NP_001030126.2:p.Asp524=	NP_001030126.2:p.Asp524Glu
sorbin and SH3 domain-containing protein 1 isoform 4	NP_001030127.2:p.Asp546=	NP_001030127.2:p.Asp546=	NP_001030127.2:p.Asp546Glu
sorbin and SH3 domain-containing protein 1 isoform 10	NP_001277225.2:p.Asp494=	NP_001277225.2:p.Asp494=	NP_001277225.2:p.Asp494Glu
sorbin and SH3 domain-containing protein 1 isoform 5	NP_001030128.2:p.Asp409=	NP_001030128.2:p.Asp409=	NP_001030128.2:p.Asp409Glu
sorbin and SH3 domain-containing protein 1 isoform 12	NP_001277227.2:p.Asp392=	NP_001277227.2:p.Asp392=	NP_001277227.2:p.Asp392Glu
sorbin and SH3 domain-containing protein 1 isoform 9	NP_001277224.2:p.Asp323=	NP_001277224.2:p.Asp323=	NP_001277224.2:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform 11	NP_001277226.2:p.Asp323=	NP_001277226.2:p.Asp323=	NP_001277226.2:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform 7	NP_001030129.2:p.Asp314=	NP_001030129.2:p.Asp314=	NP_001030129.2:p.Asp314Glu
sorbin and SH3 domain-containing protein 1 isoform X1	XP_011537452.1:p.Asp717=	XP_011537452.1:p.Asp717=	XP_011537452.1:p.Asp717Glu
sorbin and SH3 domain-containing protein 1 isoform X2	XP_016870990.1:p.Asp717=	XP_016870990.1:p.Asp717=	XP_016870990.1:p.Asp717Glu
sorbin and SH3 domain-containing protein 1 isoform X3	XP_016870991.1:p.Asp742=	XP_016870991.1:p.Asp742=	XP_016870991.1:p.Asp742Glu
sorbin and SH3 domain-containing protein 1 isoform X4	XP_016870992.1:p.Asp717=	XP_016870992.1:p.Asp717=	XP_016870992.1:p.Asp717Glu
sorbin and SH3 domain-containing protein 1 isoform X5	XP_016870994.1:p.Asp717=	XP_016870994.1:p.Asp717=	XP_016870994.1:p.Asp717Glu
sorbin and SH3 domain-containing protein 1 isoform X6	XP_016870996.1:p.Asp742=	XP_016870996.1:p.Asp742=	XP_016870996.1:p.Asp742Glu
sorbin and SH3 domain-containing protein 1 isoform X8	XP_016870999.1:p.Asp717=	XP_016870999.1:p.Asp717=	XP_016870999.1:p.Asp717Glu
sorbin and SH3 domain-containing protein 1 isoform X9	XP_006717652.1:p.Asp494=	XP_006717652.1:p.Asp494=	XP_006717652.1:p.Asp494Glu
sorbin and SH3 domain-containing protein 1 isoform X10	XP_016871004.1:p.Asp503=	XP_016871004.1:p.Asp503=	XP_016871004.1:p.Asp503Glu
sorbin and SH3 domain-containing protein 1 isoform X12	XP_016871006.1:p.Asp503=	XP_016871006.1:p.Asp503=	XP_016871006.1:p.Asp503Glu
sorbin and SH3 domain-containing protein 1 isoform X21	XP_016871019.1:p.Asp380=	XP_016871019.1:p.Asp380=	XP_016871019.1:p.Asp380Glu
sorbin and SH3 domain-containing protein 1 isoform X22	XP_016871021.1:p.Asp346=	XP_016871021.1:p.Asp346=	XP_016871021.1:p.Asp346Glu
sorbin and SH3 domain-containing protein 1 isoform X25	XP_016871026.1:p.Asp346=	XP_016871026.1:p.Asp346=	XP_016871026.1:p.Asp346Glu
sorbin and SH3 domain-containing protein 1 isoform X15	XP_016871012.1:p.Asp446=	XP_016871012.1:p.Asp446=	XP_016871012.1:p.Asp446Glu
sorbin and SH3 domain-containing protein 1 isoform X16	XP_016871014.1:p.Asp348=	XP_016871014.1:p.Asp348=	XP_016871014.1:p.Asp348Glu
sorbin and SH3 domain-containing protein 1 isoform X23	XP_016871022.1:p.Asp339=	XP_016871022.1:p.Asp339=	XP_016871022.1:p.Asp339Glu
sorbin and SH3 domain-containing protein 1 isoform X24	XP_016871025.1:p.Asp348=	XP_016871025.1:p.Asp348=	XP_016871025.1:p.Asp348Glu
sorbin and SH3 domain-containing protein 1 isoform X27	XP_016871028.1:p.Asp314=	XP_016871028.1:p.Asp314=	XP_016871028.1:p.Asp314Glu
sorbin and SH3 domain-containing protein 1 isoform X28	XP_016871029.1:p.Asp339=	XP_016871029.1:p.Asp339=	XP_016871029.1:p.Asp339Glu
sorbin and SH3 domain-containing protein 1 isoform 31	NP_001371381.1:p.Asp323=	NP_001371381.1:p.Asp323=	NP_001371381.1:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform 27	NP_001371377.1:p.Asp314=	NP_001371377.1:p.Asp314=	NP_001371377.1:p.Asp314Glu
sorbin and SH3 domain-containing protein 1 isoform 26	NP_001371376.1:p.Asp323=	NP_001371376.1:p.Asp323=	NP_001371376.1:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform 28	NP_001371378.1:p.Asp323=	NP_001371378.1:p.Asp323=	NP_001371378.1:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform 29	NP_001371379.1:p.Asp323=	NP_001371379.1:p.Asp323=	NP_001371379.1:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform 32	NP_001371383.1:p.Asp323=	NP_001371383.1:p.Asp323=	NP_001371383.1:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform 32	NP_001371382.1:p.Asp323=	NP_001371382.1:p.Asp323=	NP_001371382.1:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform 30	NP_001371380.1:p.Asp323=	NP_001371380.1:p.Asp323=	NP_001371380.1:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform X7	XP_047280424.1:p.Asp717=	XP_047280424.1:p.Asp717=	XP_047280424.1:p.Asp717Glu
sorbin and SH3 domain-containing protein 1 isoform 13	NP_001364126.1:p.Asp494=	NP_001364126.1:p.Asp494=	NP_001364126.1:p.Asp494Glu
sorbin and SH3 domain-containing protein 1 isoform X11	XP_047280425.1:p.Asp478=	XP_047280425.1:p.Asp478=	XP_047280425.1:p.Asp478Glu
sorbin and SH3 domain-containing protein 1 isoform 14	NP_001364127.1:p.Asp471=	NP_001364127.1:p.Asp471=	NP_001364127.1:p.Asp471Glu
sorbin and SH3 domain-containing protein 1 isoform X13	XP_047280426.1:p.Asp462=	XP_047280426.1:p.Asp462=	XP_047280426.1:p.Asp462Glu
sorbin and SH3 domain-containing protein 1 isoform 15	NP_001364128.1:p.Asp478=	NP_001364128.1:p.Asp478=	NP_001364128.1:p.Asp478Glu
sorbin and SH3 domain-containing protein 1 isoform 33	NP_001371387.1:p.Asp391=	NP_001371387.1:p.Asp391=	NP_001371387.1:p.Asp391Glu
sorbin and SH3 domain-containing protein 1 isoform 16	NP_001364129.1:p.Asp446=	NP_001364129.1:p.Asp446=	NP_001364129.1:p.Asp446Glu
sorbin and SH3 domain-containing protein 1 isoform 34	NP_001371388.1:p.Asp444=	NP_001371388.1:p.Asp444=	NP_001371388.1:p.Asp444Glu
sorbin and SH3 domain-containing protein 1 isoform 17	NP_001364130.1:p.Asp469=	NP_001364130.1:p.Asp469=	NP_001364130.1:p.Asp469Glu
sorbin and SH3 domain-containing protein 1 isoform 11	NP_001371385.1:p.Asp323=	NP_001371385.1:p.Asp323=	NP_001371385.1:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform X14	XP_047280427.1:p.Asp437=	XP_047280427.1:p.Asp437=	XP_047280427.1:p.Asp437Glu
sorbin and SH3 domain-containing protein 1 isoform 35	NP_001371389.1:p.Asp423=	NP_001371389.1:p.Asp423=	NP_001371389.1:p.Asp423Glu
sorbin and SH3 domain-containing protein 1 isoform 18	NP_001364131.1:p.Asp437=	NP_001364131.1:p.Asp437=	NP_001364131.1:p.Asp437Glu
sorbin and SH3 domain-containing protein 1 isoform 11	NP_001371386.1:p.Asp323=	NP_001371386.1:p.Asp323=	NP_001371386.1:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform X17	XP_047280428.1:p.Asp478=	XP_047280428.1:p.Asp478=	XP_047280428.1:p.Asp478Glu
sorbin and SH3 domain-containing protein 1 isoform 36	NP_001371390.1:p.Asp391=	NP_001371390.1:p.Asp391=	NP_001371390.1:p.Asp391Glu
sorbin and SH3 domain-containing protein 1 isoform X18	XP_047280429.1:p.Asp446=	XP_047280429.1:p.Asp446=	XP_047280429.1:p.Asp446Glu
sorbin and SH3 domain-containing protein 1 isoform X19	XP_047280430.1:p.Asp469=	XP_047280430.1:p.Asp469=	XP_047280430.1:p.Asp469Glu
sorbin and SH3 domain-containing protein 1 isoform 37	NP_001371391.1:p.Asp382=	NP_001371391.1:p.Asp382=	NP_001371391.1:p.Asp382Glu
sorbin and SH3 domain-containing protein 1 isoform 19	NP_001364132.1:p.Asp380=	NP_001364132.1:p.Asp380=	NP_001364132.1:p.Asp380Glu
sorbin and SH3 domain-containing protein 1 isoform 40	NP_001371394.1:p.Asp435=	NP_001371394.1:p.Asp435=	NP_001371394.1:p.Asp435Glu
sorbin and SH3 domain-containing protein 1 isoform 20	NP_001364133.1:p.Asp323=	NP_001364133.1:p.Asp323=	NP_001364133.1:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform 21	NP_001364134.1:p.Asp371=	NP_001364134.1:p.Asp371=	NP_001364134.1:p.Asp371Glu
sorbin and SH3 domain-containing protein 1 isoform 22	NP_001364135.1:p.Asp355=	NP_001364135.1:p.Asp355=	NP_001364135.1:p.Asp355Glu
sorbin and SH3 domain-containing protein 1 isoform 38	NP_001371392.1:p.Asp398=	NP_001371392.1:p.Asp398=	NP_001371392.1:p.Asp398Glu
sorbin and SH3 domain-containing protein 1 isoform X20	XP_047280431.1:p.Asp437=	XP_047280431.1:p.Asp437=	XP_047280431.1:p.Asp437Glu
sorbin and SH3 domain-containing protein 1 isoform 23	NP_001364136.1:p.Asp348=	NP_001364136.1:p.Asp348=	NP_001364136.1:p.Asp348Glu
sorbin and SH3 domain-containing protein 1 isoform 11	NP_001371384.1:p.Asp323=	NP_001371384.1:p.Asp323=	NP_001371384.1:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform 24	NP_001364137.1:p.Asp380=	NP_001364137.1:p.Asp380=	NP_001364137.1:p.Asp380Glu
sorbin and SH3 domain-containing protein 1 isoform 25	NP_001364138.1:p.Asp323=	NP_001364138.1:p.Asp323=	NP_001364138.1:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform X26	XP_047280432.1:p.Asp371=	XP_047280432.1:p.Asp371=	XP_047280432.1:p.Asp371Glu
sorbin and SH3 domain-containing protein 1 isoform 39	NP_001371393.1:p.Asp366=	NP_001371393.1:p.Asp366=	NP_001371393.1:p.Asp366Glu
sorbin and SH3 domain-containing protein 1 isoform X29	XP_047280433.1:p.Asp355=	XP_047280433.1:p.Asp355=	XP_047280433.1:p.Asp355Glu
sorbin and SH3 domain-containing protein 1 isoform X30	XP_047280434.1:p.Asp346=	XP_047280434.1:p.Asp346=	XP_047280434.1:p.Asp346Glu
sorbin and SH3 domain-containing protein 1 isoform X31	XP_047280435.1:p.Asp323=	XP_047280435.1:p.Asp323=	XP_047280435.1:p.Asp323Glu
sorbin and SH3 domain-containing protein 1 isoform 3	NP_001030126.1:p.Asp524=	NP_001030126.1:p.Asp524=	NP_001030126.1:p.Asp524Glu
sorbin and SH3 domain-containing protein 1 isoform 4	NP_001030127.1:p.Asp546=	NP_001030127.1:p.Asp546=	NP_001030127.1:p.Asp546Glu
sorbin and SH3 domain-containing protein 1 isoform 5	NP_001030128.1:p.Asp409=	NP_001030128.1:p.Asp409=	NP_001030128.1:p.Asp409Glu
sorbin and SH3 domain-containing protein 1 isoform 7	NP_001030129.1:p.Asp314=	NP_001030129.1:p.Asp314=	NP_001030129.1:p.Asp314Glu
sorbin and SH3 domain-containing protein 1 isoform 1	NP_006425.2:p.Asp314=	NP_006425.2:p.Asp314=	NP_006425.2:p.Asp314Glu
sorbin and SH3 domain-containing protein 1 isoform 2	NP_056200.1:p.Asp446=	NP_056200.1:p.Asp446=	NP_056200.1:p.Asp446Glu
sorbin and SH3 domain-containing protein 1 isoform 6	NP_079267.1:p.Asp355=	NP_079267.1:p.Asp355=	NP_079267.1:p.Asp355Glu

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

175 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3210285	Sep 28, 2001 (100)
2	SC_SNP	ss16068186	Feb 27, 2004 (120)
3	PERLEGEN	ss23589111	Sep 20, 2004 (123)
4	ILLUMINA	ss67240372	Nov 29, 2006 (127)
5	ILLUMINA	ss67637005	Nov 29, 2006 (127)
6	ILLUMINA	ss68200983	Dec 12, 2006 (127)
7	ILLUMINA	ss70718712	May 25, 2008 (130)
8	ILLUMINA	ss71286926	May 16, 2007 (127)
9	ILLUMINA	ss75447570	Dec 06, 2007 (129)
10	HGSV	ss81037329	Dec 15, 2007 (130)
11	KRIBB_YJKIM	ss84016069	Dec 15, 2007 (130)
12	CORNELL	ss86240347	Mar 23, 2008 (129)
13	BCMHGSC_JDW	ss88318644	Mar 23, 2008 (129)
14	SHGC	ss95216296	Feb 05, 2009 (130)
15	BGI	ss106696026	Feb 05, 2009 (130)
16	1000GENOMES	ss109671520	Jan 24, 2009 (130)
17	1000GENOMES	ss113677756	Jan 25, 2009 (130)
18	ILLUMINA-UK	ss119276922	Feb 15, 2009 (130)
19	ENSEMBL	ss132021887	Dec 01, 2009 (131)
20	ILLUMINA	ss153897434	Dec 01, 2009 (131)
21	GMI	ss155409684	Dec 01, 2009 (131)
22	ILLUMINA	ss159375276	Dec 01, 2009 (131)
23	SEATTLESEQ	ss159721140	Dec 01, 2009 (131)
24	ILLUMINA	ss160525883	Dec 01, 2009 (131)
25	COMPLETE_GENOMICS	ss168690912	Jul 04, 2010 (132)
26	COMPLETE_GENOMICS	ss170783761	Jul 04, 2010 (132)
27	ILLUMINA	ss173235855	Jul 04, 2010 (132)
28	COMPLETE_GENOMICS	ss174705394	Jul 04, 2010 (132)
29	BUSHMAN	ss201891931	Jul 04, 2010 (132)
30	BCM-HGSC-SUB	ss207171160	Jul 04, 2010 (132)
31	1000GENOMES	ss217322592	Jul 14, 2010 (132)
32	1000GENOMES	ss217399377	Jul 14, 2010 (132)
33	1000GENOMES	ss217400930	Jul 14, 2010 (132)
34	1000GENOMES	ss217409145	Jul 14, 2010 (132)
35	1000GENOMES	ss217419959	Jul 14, 2010 (132)
36	1000GENOMES	ss217422042	Jul 14, 2010 (132)
37	1000GENOMES	ss217425012	Jul 14, 2010 (132)
38	1000GENOMES	ss224886240	Jul 14, 2010 (132)
39	1000GENOMES	ss235294413	Jul 15, 2010 (132)
40	1000GENOMES	ss241977083	Jul 15, 2010 (132)
41	BL	ss254539565	May 09, 2011 (134)
42	GMI	ss280733867	May 04, 2012 (137)
43	GMI	ss286244631	Apr 25, 2013 (138)
44	PJP	ss290910247	May 09, 2011 (134)
45	NHLBI-ESP	ss342304307	May 09, 2011 (134)
46	ILLUMINA	ss480498311	May 04, 2012 (137)
47	ILLUMINA	ss480512667	May 04, 2012 (137)
48	ILLUMINA	ss481317808	Sep 08, 2015 (146)
49	ILLUMINA	ss485046656	May 04, 2012 (137)
50	1000GENOMES	ss491001776	May 04, 2012 (137)
51	CLINSEQ_SNP	ss491630074	May 04, 2012 (137)
52	ILLUMINA	ss537066709	Sep 08, 2015 (146)
53	TISHKOFF	ss562145290	Apr 25, 2013 (138)
54	SSMP	ss657189709	Apr 25, 2013 (138)
55	ILLUMINA	ss778489019	Aug 21, 2014 (142)
56	ILLUMINA	ss782969548	Aug 21, 2014 (142)
57	ILLUMINA	ss783931199	Aug 21, 2014 (142)
58	ILLUMINA	ss832225858	Apr 01, 2015 (144)
59	ILLUMINA	ss832887085	Aug 21, 2014 (142)
60	ILLUMINA	ss833477915	Aug 21, 2014 (142)
61	ILLUMINA	ss833944994	Aug 21, 2014 (142)
62	JMKIDD_LAB	ss974475619	Aug 21, 2014 (142)
63	EVA-GONL	ss987809647	Aug 21, 2014 (142)
64	JMKIDD_LAB	ss1067515007	Aug 21, 2014 (142)
65	JMKIDD_LAB	ss1077218948	Aug 21, 2014 (142)
66	1000GENOMES	ss1338642741	Aug 21, 2014 (142)
67	HAMMER_LAB	ss1397589621	Sep 08, 2015 (146)
68	DDI	ss1426412635	Apr 01, 2015 (144)
69	EVA_GENOME_DK	ss1575299072	Apr 01, 2015 (144)
70	EVA_FINRISK	ss1584069520	Apr 01, 2015 (144)
71	EVA_DECODE	ss1597482831	Apr 01, 2015 (144)
72	EVA_EXAC	ss1690014654	Apr 01, 2015 (144)
73	EVA_MGP	ss1711266008	Apr 01, 2015 (144)
74	EVA_SVP	ss1713203000	Apr 01, 2015 (144)
75	ILLUMINA	ss1751988677	Sep 08, 2015 (146)
76	HAMMER_LAB	ss1806522116	Sep 08, 2015 (146)
77	WEILL_CORNELL_DGM	ss1931175698	Feb 12, 2016 (147)
78	ILLUMINA	ss1946289950	Feb 12, 2016 (147)
79	ILLUMINA	ss1959285376	Feb 12, 2016 (147)
80	GENOMED	ss1967200582	Jul 19, 2016 (147)
81	JJLAB	ss2026316240	Sep 14, 2016 (149)
82	USC_VALOUEV	ss2154593007	Nov 08, 2017 (151)
83	HUMAN_LONGEVITY	ss2177183806	Dec 20, 2016 (150)
84	SYSTEMSBIOZJU	ss2627626706	Nov 08, 2017 (151)
85	ILLUMINA	ss2632749061	Nov 08, 2017 (151)
86	ILLUMINA	ss2635018062	Nov 08, 2017 (151)
87	GRF	ss2698845811	Nov 08, 2017 (151)
88	ILLUMINA	ss2710661493	Nov 08, 2017 (151)
89	GNOMAD	ss2738425087	Nov 08, 2017 (151)
90	GNOMAD	ss2748442738	Nov 08, 2017 (151)
91	GNOMAD	ss2892181504	Nov 08, 2017 (151)
92	AFFY	ss2984920149	Nov 08, 2017 (151)
93	SWEGEN	ss3006974130	Nov 08, 2017 (151)
94	ILLUMINA	ss3021265268	Nov 08, 2017 (151)
95	EVA_SAMSUNG_MC	ss3023065718	Nov 08, 2017 (151)
96	BIOINF_KMB_FNS_UNIBA	ss3026948256	Nov 08, 2017 (151)
97	CSHL	ss3349263469	Nov 08, 2017 (151)
98	ILLUMINA	ss3625585064	Oct 12, 2018 (152)
99	ILLUMINA	ss3626510868	Oct 12, 2018 (152)
100	ILLUMINA	ss3630772222	Oct 12, 2018 (152)
101	ILLUMINA	ss3632960616	Oct 12, 2018 (152)
102	ILLUMINA	ss3633658273	Oct 12, 2018 (152)
103	ILLUMINA	ss3634418204	Oct 12, 2018 (152)
104	ILLUMINA	ss3635350535	Oct 12, 2018 (152)
105	ILLUMINA	ss3636102963	Oct 12, 2018 (152)
106	ILLUMINA	ss3637101247	Oct 12, 2018 (152)
107	ILLUMINA	ss3637867647	Oct 12, 2018 (152)
108	ILLUMINA	ss3638949532	Oct 12, 2018 (152)
109	ILLUMINA	ss3639786129	Oct 12, 2018 (152)
110	ILLUMINA	ss3640125545	Oct 12, 2018 (152)
111	ILLUMINA	ss3641005414	Oct 12, 2018 (152)
112	ILLUMINA	ss3641299749	Oct 12, 2018 (152)
113	ILLUMINA	ss3642869673	Oct 12, 2018 (152)
114	ILLUMINA	ss3643838673	Oct 12, 2018 (152)
115	ILLUMINA	ss3644542692	Oct 12, 2018 (152)
116	OMUKHERJEE_ADBS	ss3646413719	Oct 12, 2018 (152)
117	ILLUMINA	ss3651623726	Oct 12, 2018 (152)
118	ILLUMINA	ss3653690885	Oct 12, 2018 (152)
119	EGCUT_WGS	ss3674385802	Jul 13, 2019 (153)
120	EVA_DECODE	ss3690470726	Jul 13, 2019 (153)
121	ILLUMINA	ss3725179827	Jul 13, 2019 (153)
122	ACPOP	ss3737589725	Jul 13, 2019 (153)
123	ILLUMINA	ss3744074747	Jul 13, 2019 (153)
124	ILLUMINA	ss3744719166	Jul 13, 2019 (153)
125	EVA	ss3748474084	Jul 13, 2019 (153)
126	PAGE_CC	ss3771575985	Jul 13, 2019 (153)
127	ILLUMINA	ss3772219522	Jul 13, 2019 (153)
128	PACBIO	ss3786758098	Jul 13, 2019 (153)
129	PACBIO	ss3791925336	Jul 13, 2019 (153)
130	PACBIO	ss3796807458	Jul 13, 2019 (153)
131	KHV_HUMAN_GENOMES	ss3813841013	Jul 13, 2019 (153)
132	EVA	ss3824541523	Apr 26, 2020 (154)
133	EVA	ss3825526580	Apr 26, 2020 (154)
134	EVA	ss3825542046	Apr 26, 2020 (154)
135	EVA	ss3825780910	Apr 26, 2020 (154)
136	EVA	ss3832278991	Apr 26, 2020 (154)
137	EVA	ss3839680929	Apr 26, 2020 (154)
138	EVA	ss3845154635	Apr 26, 2020 (154)
139	HGDP	ss3847396171	Apr 26, 2020 (154)
140	SGDP_PRJ	ss3874837291	Apr 26, 2020 (154)
141	KRGDB	ss3922966909	Apr 26, 2020 (154)
142	KOGIC	ss3968467184	Apr 26, 2020 (154)
143	FSA-LAB	ss3983983518	Apr 26, 2021 (155)
144	EVA	ss3984639131	Apr 26, 2021 (155)
145	EVA	ss3985493507	Apr 26, 2021 (155)
146	EVA	ss3986051282	Apr 26, 2021 (155)
147	EVA	ss3986493678	Apr 26, 2021 (155)
148	EVA	ss4017501865	Apr 26, 2021 (155)
149	TOPMED	ss4862793127	Apr 26, 2021 (155)
150	TOMMO_GENOMICS	ss5198989715	Apr 26, 2021 (155)
151	EVA	ss5236886134	Apr 26, 2021 (155)
152	EVA	ss5237210099	Apr 26, 2021 (155)
153	EVA	ss5237655837	Oct 16, 2022 (156)
154	1000G_HIGH_COVERAGE	ss5285104394	Oct 16, 2022 (156)
155	EVA	ss5315494846	Oct 16, 2022 (156)
156	HUGCELL_USP	ss5480561040	Oct 16, 2022 (156)
157	EVA	ss5510131689	Oct 16, 2022 (156)
158	1000G_HIGH_COVERAGE	ss5579589983	Oct 16, 2022 (156)
159	EVA	ss5623950128	Oct 16, 2022 (156)
160	EVA	ss5624011536	Oct 16, 2022 (156)
161	SANFORD_IMAGENETICS	ss5649895439	Oct 16, 2022 (156)
162	TOMMO_GENOMICS	ss5745213842	Oct 16, 2022 (156)
163	EVA	ss5799821731	Oct 16, 2022 (156)
164	EVA	ss5800062062	Oct 16, 2022 (156)
165	EVA	ss5800161282	Oct 16, 2022 (156)
166	YY_MCH	ss5811796550	Oct 16, 2022 (156)
167	EVA	ss5824813459	Oct 16, 2022 (156)
168	EVA	ss5847605833	Oct 16, 2022 (156)
169	EVA	ss5848304648	Oct 16, 2022 (156)
170	EVA	ss5849698880	Oct 16, 2022 (156)
171	EVA	ss5880104007	Oct 16, 2022 (156)
172	EVA	ss5936545449	Oct 16, 2022 (156)
173	EVA	ss5941181926	Oct 16, 2022 (156)
174	EVA	ss5980631810	Oct 16, 2022 (156)
175	EVA	ss5981262330	Oct 16, 2022 (156)
176	1000Genomes	NC_000010.10 - 97141523	Oct 12, 2018 (152)
177	1000Genomes_30x	NC_000010.11 - 95381766	Oct 16, 2022 (156)
178	Genome-wide autozygosity in Daghestan	NC_000010.9 - 97131513	Apr 26, 2020 (154)
179	Genetic variation in the Estonian population	NC_000010.10 - 97141523	Oct 12, 2018 (152)
180	ExAC	NC_000010.10 - 97141523	Oct 12, 2018 (152)
181	FINRISK	NC_000010.10 - 97141523	Apr 26, 2020 (154)
182	The Danish reference pan genome	NC_000010.10 - 97141523	Apr 26, 2020 (154)
183	gnomAD - Genomes	NC_000010.11 - 95381766	Apr 26, 2021 (155)
184	gnomAD - Exomes	NC_000010.10 - 97141523	Jul 13, 2019 (153)
185	GO Exome Sequencing Project	NC_000010.10 - 97141523	Oct 12, 2018 (152)
186	Genome of the Netherlands Release 5	NC_000010.10 - 97141523	Apr 26, 2020 (154)
187	HGDP-CEPH-db Supplement 1	NC_000010.9 - 97131513	Apr 26, 2020 (154)
188	HapMap	NC_000010.11 - 95381766	Apr 26, 2020 (154)
189	KOREAN population from KRGDB	NC_000010.10 - 97141523	Apr 26, 2020 (154)
190	Korean Genome Project	NC_000010.11 - 95381766	Apr 26, 2020 (154)
191	Medical Genome Project healthy controls from Spanish population	NC_000010.10 - 97141523	Apr 26, 2020 (154)
192	Northern Sweden	NC_000010.10 - 97141523	Jul 13, 2019 (153)
193	The PAGE Study	NC_000010.11 - 95381766	Jul 13, 2019 (153)
194	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000010.10 - 97141523	Apr 26, 2021 (155)
195	CNV burdens in cranial meningiomas	NC_000010.10 - 97141523	Apr 26, 2021 (155)
196	Qatari	NC_000010.10 - 97141523	Apr 26, 2020 (154)
197	SGDP_PRJ	NC_000010.10 - 97141523	Apr 26, 2020 (154)
198	Siberian	NC_000010.10 - 97141523	Apr 26, 2020 (154)
199	8.3KJPN	NC_000010.10 - 97141523	Apr 26, 2021 (155)
200	14KJPN	NC_000010.11 - 95381766	Oct 16, 2022 (156)
201	TopMed	NC_000010.11 - 95381766	Apr 26, 2021 (155)
202	A Vietnamese Genetic Variation Database	NC_000010.10 - 97141523	Jul 13, 2019 (153)
203	ALFA	NC_000010.11 - 95381766	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs59742527	May 25, 2008 (130)
rs118164647	Aug 16, 2010 (132)
rs386563225	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81037329, ss3638949532, ss3639786129, ss3643838673	NC_000010.8:97131512:G:A	NC_000010.11:95381765:G:A	(self)
61046, 74063, ss88318644, ss109671520, ss113677756, ss119276922, ss168690912, ss170783761, ss174705394, ss201891931, ss207171160, ss217322592, ss217399377, ss217400930, ss217409145, ss217419959, ss217422042, ss217425012, ss254539565, ss280733867, ss286244631, ss290910247, ss480498311, ss491630074, ss1397589621, ss1597482831, ss1713203000, ss2635018062, ss2710661493, ss3642869673, ss3847396171	NC_000010.9:97131512:G:A	NC_000010.11:95381765:G:A	(self)
51074833, 20124050, 244475, 65981, 2284562, 7625225, 999203, 12644366, 30144303, 381768, 10874590, 719434, 188598, 13217628, 26854271, 7109361, 56959022, 6296778, ss224886240, ss235294413, ss241977083, ss342304307, ss480512667, ss481317808, ss485046656, ss491001776, ss537066709, ss562145290, ss657189709, ss778489019, ss782969548, ss783931199, ss832225858, ss832887085, ss833477915, ss833944994, ss974475619, ss987809647, ss1067515007, ss1077218948, ss1338642741, ss1426412635, ss1575299072, ss1584069520, ss1690014654, ss1711266008, ss1751988677, ss1806522116, ss1931175698, ss1946289950, ss1959285376, ss1967200582, ss2026316240, ss2154593007, ss2627626706, ss2632749061, ss2698845811, ss2738425087, ss2748442738, ss2892181504, ss2984920149, ss3006974130, ss3021265268, ss3023065718, ss3349263469, ss3625585064, ss3626510868, ss3630772222, ss3632960616, ss3633658273, ss3634418204, ss3635350535, ss3636102963, ss3637101247, ss3637867647, ss3640125545, ss3641005414, ss3641299749, ss3644542692, ss3646413719, ss3651623726, ss3653690885, ss3674385802, ss3737589725, ss3744074747, ss3744719166, ss3748474084, ss3772219522, ss3786758098, ss3791925336, ss3796807458, ss3824541523, ss3825526580, ss3825542046, ss3825780910, ss3832278991, ss3839680929, ss3874837291, ss3922966909, ss3983983518, ss3984639131, ss3985493507, ss3986051282, ss3986493678, ss4017501865, ss5198989715, ss5315494846, ss5510131689, ss5623950128, ss5624011536, ss5649895439, ss5799821731, ss5800062062, ss5800161282, ss5824813459, ss5847605833, ss5848304648, ss5936545449, ss5941181926, ss5980631810, ss5981262330	NC_000010.10:97141522:G:A	NC_000010.11:95381765:G:A	(self)
67115918, 360872905, 469033, 24845185, 797454, 79050946, 78338782, 6031593403, ss2177183806, ss3026948256, ss3690470726, ss3725179827, ss3771575985, ss3813841013, ss3845154635, ss3968467184, ss4862793127, ss5236886134, ss5237210099, ss5237655837, ss5285104394, ss5480561040, ss5579589983, ss5745213842, ss5811796550, ss5849698880, ss5880104007	NC_000010.11:95381765:G:A	NC_000010.11:95381765:G:A	(self)
ss16068186	NT_030059.11:15890048:G:A	NC_000010.11:95381765:G:A	(self)
ss3210285, ss23589111, ss67240372, ss67637005, ss68200983, ss70718712, ss71286926, ss75447570, ss84016069, ss86240347, ss95216296, ss106696026, ss132021887, ss153897434, ss155409684, ss159375276, ss159721140, ss160525883, ss173235855	NT_030059.13:47945986:G:A	NC_000010.11:95381765:G:A	(self)
6031593403	NC_000010.11:95381765:G:T	NC_000010.11:95381765:G:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

3 citations for rs2274490

PMID	Title	Author	Year	Journal
21300347	Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome.	Goodarzi MO et al.	2011	Fertility and sterility
26962801	Genetic Variation in the Human SORBS1 Gene is Associated With Blood Pressure Regulation and Age at Onset of Hypertension: A SAPPHIRe Cohort Study.	Chang TJ et al.	2016	Medicine
30002559	Genetic variation of SORBS1 gene is associated with glucose homeostasis and age at onset of diabetes: A SAPPHIRe Cohort Study.	Chang TJ et al.	2018	Scientific reports

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2274490