Name: rs62014006
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.

rs62014006

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:7294940 (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: T>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.496536 (131428/264690, TOPMED)
G=0.486763 (68138/139982, GnomAD)
G=0.43215 (10057/23272, ALFA) (+ 14 more)
T=0.20871 (3498/16760, 8.3KJPN)
T=0.4477 (2867/6404, 1000G_30x)
T=0.4371 (2189/5008, 1000G)
T=0.4647 (2082/4480, Estonian)
T=0.4569 (1761/3854, ALSPAC)
T=0.4682 (1736/3708, TWINSUK)
T=0.1904 (558/2930, KOREAN)
T=0.435 (434/998, GoNL)
T=0.470 (282/600, NorthernSweden)
T=0.253 (116/458, SGDP_PRJ)
T=0.477 (103/216, Qatari)
T=0.192 (41/214, Vietnamese)
T=0.33 (15/46, Siberian)
T=0.40 (16/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RBFOX1 : Intron Variant
Publications: 0 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	23272	T=0.56785	A=0.00000, G=0.43215	0.361722	0.226023	0.412255	32
European	Sub	17180	T=0.52194	A=0.00000, G=0.47806	0.300815	0.256927	0.442258	32
African	Sub	4284	T=0.7771	A=0.0000, G=0.2229	0.630252	0.076097	0.293651	27
African Others	Sub	152	T=0.836	A=0.000, G=0.164	0.697368	0.026316	0.276316	0
African American	Sub	4132	T=0.7749	A=0.0000, G=0.2251	0.627783	0.077928	0.294288	27
Asian	Sub	18	T=0.17	A=0.00, G=0.83	0.0	0.666667	0.333333	0
East Asian	Sub	16	T=0.12	A=0.00, G=0.88	0.0	0.75	0.25	0
Other Asian	Sub	2	T=0.5	A=0.0, G=0.5	0.0	0.0	1.0	1
Latin American 1	Sub	56	T=0.88	A=0.00, G=0.12	0.785714	0.035714	0.178571	1
Latin American 2	Sub	174	T=0.678	A=0.000, G=0.322	0.551724	0.195402	0.252874	9
South Asian	Sub	32	T=0.66	A=0.00, G=0.34	0.5	0.1875	0.3125	1
Other	Sub	1528	T=0.4764	A=0.0000, G=0.5236	0.257853	0.304974	0.437173	7

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
TopMed	Global	Study-wide	264690	T=0.503464	G=0.496536
gnomAD - Genomes	Global	Study-wide	139982	T=0.513237	G=0.486763
gnomAD - Genomes	European	Sub	75800	T=0.45815	G=0.54185
gnomAD - Genomes	African	Sub	41960	T=0.67548	G=0.32452
gnomAD - Genomes	American	Sub	13636	T=0.42483	G=0.57517
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.4272	G=0.5728
gnomAD - Genomes	East Asian	Sub	3120	T=0.1519	G=0.8481
gnomAD - Genomes	Other	Sub	2144	T=0.5070	G=0.4930
Allele Frequency Aggregator	Total	Global	23272	T=0.56785	A=0.00000, G=0.43215
Allele Frequency Aggregator	European	Sub	17180	T=0.52194	A=0.00000, G=0.47806
Allele Frequency Aggregator	African	Sub	4284	T=0.7771	A=0.0000, G=0.2229
Allele Frequency Aggregator	Other	Sub	1528	T=0.4764	A=0.0000, G=0.5236
Allele Frequency Aggregator	Latin American 2	Sub	174	T=0.678	A=0.000, G=0.322
Allele Frequency Aggregator	Latin American 1	Sub	56	T=0.88	A=0.00, G=0.12
Allele Frequency Aggregator	South Asian	Sub	32	T=0.66	A=0.00, G=0.34
Allele Frequency Aggregator	Asian	Sub	18	T=0.17	A=0.00, G=0.83
8.3KJPN	JAPANESE	Study-wide	16760	T=0.20871	G=0.79129
1000Genomes_30x	Global	Study-wide	6404	T=0.4477	G=0.5523
1000Genomes_30x	African	Sub	1786	T=0.7240	G=0.2760
1000Genomes_30x	Europe	Sub	1266	T=0.4984	G=0.5016
1000Genomes_30x	South Asian	Sub	1202	T=0.3220	G=0.6780
1000Genomes_30x	East Asian	Sub	1170	T=0.1513	G=0.8487
1000Genomes_30x	American	Sub	980	T=0.387	G=0.613
1000Genomes	Global	Study-wide	5008	T=0.4371	G=0.5629
1000Genomes	African	Sub	1322	T=0.7216	G=0.2784
1000Genomes	East Asian	Sub	1008	T=0.1429	G=0.8571
1000Genomes	Europe	Sub	1006	T=0.4930	G=0.5070
1000Genomes	South Asian	Sub	978	T=0.333	G=0.667
1000Genomes	American	Sub	694	T=0.388	G=0.612
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.4647	G=0.5353
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.4569	G=0.5431
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4682	G=0.5318
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.1904	A=0.0000, C=0.0000, G=0.8096
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.435	G=0.565
Northern Sweden	ACPOP	Study-wide	600	T=0.470	G=0.530
SGDP_PRJ	Global	Study-wide	458	T=0.253	G=0.747
Qatari	Global	Study-wide	216	T=0.477	G=0.523
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.192	G=0.808
Siberian	Global	Study-wide	46	T=0.33	G=0.67
The Danish reference pan genome	Danish	Study-wide	40	T=0.40	G=0.60

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 16	NC_000016.10:g.7294940T>A
GRCh38.p14 chr 16	NC_000016.10:g.7294940T>C
GRCh38.p14 chr 16	NC_000016.10:g.7294940T>G
GRCh37.p13 chr 16	NC_000016.9:g.7344941T>A
GRCh37.p13 chr 16	NC_000016.9:g.7344941T>C
GRCh37.p13 chr 16	NC_000016.9:g.7344941T>G
RBFOX1 RefSeqGene	NG_011881.2:g.2060189T>A
RBFOX1 RefSeqGene	NG_011881.2:g.2060189T>C
RBFOX1 RefSeqGene	NG_011881.2:g.2060189T>G

Gene: RBFOX1, RNA binding fox-1 homolog 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RBFOX1 transcript variant 5	NM_001142333.2:c.28-22320… NM_001142333.2:c.28-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant 6	NM_001142334.2:c.28-22320… NM_001142334.2:c.28-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant 7	NM_001308117.1:c.157-2232… NM_001308117.1:c.157-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant 8	NM_001364800.2:c.28-22320… NM_001364800.2:c.28-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant 4	NM_018723.4:c.28-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant 1	NM_145891.3:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant 2	NM_145892.3:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant 3	NM_145893.3:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X9	XM_005255391.5:c.28-22320… XM_005255391.5:c.28-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X1	XM_017023318.3:c.625-2232… XM_017023318.3:c.625-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X4	XM_017023319.3:c.505-2232… XM_017023319.3:c.505-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X3	XM_017023320.3:c.157-2232… XM_017023320.3:c.157-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X4	XM_017023321.3:c.136-2232… XM_017023321.3:c.136-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X8	XM_017023322.3:c.136-2232… XM_017023322.3:c.136-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X12	XM_017023324.3:c.157-2232… XM_017023324.3:c.157-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X20	XM_017023328.3:c.157-2232… XM_017023328.3:c.157-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X22	XM_017023329.3:c.157-2232… XM_017023329.3:c.157-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X24	XM_017023330.2:c.136-2232… XM_017023330.2:c.136-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X43	XM_017023340.2:c.28-22320… XM_017023340.2:c.28-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X2	XM_024450303.2:c.586-2232… XM_024450303.2:c.586-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X13	XM_024450304.2:c.136-2232… XM_024450304.2:c.136-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X7	XM_024450305.2:c.136-2232… XM_024450305.2:c.136-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X33	XM_024450309.2:c.157-2232… XM_024450309.2:c.157-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X34	XM_024450310.2:c.157-2232… XM_024450310.2:c.157-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X35	XM_024450311.2:c.136-2232… XM_024450311.2:c.136-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X36	XM_024450312.2:c.136-2232… XM_024450312.2:c.136-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X37	XM_024450313.2:c.136-2232… XM_024450313.2:c.136-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X42	XM_024450314.2:c.157-2232… XM_024450314.2:c.157-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X3	XM_047434241.1:c.505-2232… XM_047434241.1:c.505-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X6	XM_047434242.1:c.157-2232… XM_047434242.1:c.157-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X10	XM_047434244.1:c.28-22320… XM_047434244.1:c.28-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X19	XM_047434245.1:c.136-2232… XM_047434245.1:c.136-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X26	XM_047434247.1:c.136-2232… XM_047434247.1:c.136-223207T>A	N/A	Intron Variant
RBFOX1 transcript variant X5	XM_005255386.5:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X6	XM_005255387.5:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X31	XM_005255394.5:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X21	XM_011522546.3:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X29	XM_011522547.3:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X41	XM_011522548.3:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X10	XM_017023323.3:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X18	XM_017023327.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X27	XM_017023332.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X28	XM_017023334.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X38	XM_017023337.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X11	XM_024450306.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X32	XM_024450308.2:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X8	XM_047434243.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X25	XM_047434246.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X30	XM_047434248.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X12	XM_047434249.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X40	XM_047434250.1:c.	N/A	Genic Upstream Transcript Variant
RBFOX1 transcript variant X44	XM_047434251.1:c.	N/A	Genic Upstream Transcript 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	T=	A	C	G
GRCh38.p14 chr 16	NC_000016.10:g.7294940=	NC_000016.10:g.7294940T>A	NC_000016.10:g.7294940T>C	NC_000016.10:g.7294940T>G
GRCh37.p13 chr 16	NC_000016.9:g.7344941=	NC_000016.9:g.7344941T>A	NC_000016.9:g.7344941T>C	NC_000016.9:g.7344941T>G
RBFOX1 RefSeqGene	NG_011881.2:g.2060189=	NG_011881.2:g.2060189T>A	NG_011881.2:g.2060189T>C	NG_011881.2:g.2060189T>G
RBFOX1 transcript variant 5	NM_001142333.1:c.28-223208=	NM_001142333.1:c.28-223208T>A	NM_001142333.1:c.28-223208T>C	NM_001142333.1:c.28-223208T>G
RBFOX1 transcript variant 5	NM_001142333.2:c.28-223207=	NM_001142333.2:c.28-223207T>A	NM_001142333.2:c.28-223207T>C	NM_001142333.2:c.28-223207T>G
RBFOX1 transcript variant 6	NM_001142334.1:c.28-223208=	NM_001142334.1:c.28-223208T>A	NM_001142334.1:c.28-223208T>C	NM_001142334.1:c.28-223208T>G
RBFOX1 transcript variant 6	NM_001142334.2:c.28-223207=	NM_001142334.2:c.28-223207T>A	NM_001142334.2:c.28-223207T>C	NM_001142334.2:c.28-223207T>G
RBFOX1 transcript variant 7	NM_001308117.1:c.157-223207=	NM_001308117.1:c.157-223207T>A	NM_001308117.1:c.157-223207T>C	NM_001308117.1:c.157-223207T>G
RBFOX1 transcript variant 8	NM_001364800.2:c.28-223207=	NM_001364800.2:c.28-223207T>A	NM_001364800.2:c.28-223207T>C	NM_001364800.2:c.28-223207T>G
RBFOX1 transcript variant 4	NM_018723.3:c.28-223208=	NM_018723.3:c.28-223208T>A	NM_018723.3:c.28-223208T>C	NM_018723.3:c.28-223208T>G
RBFOX1 transcript variant 4	NM_018723.4:c.28-223207=	NM_018723.4:c.28-223207T>A	NM_018723.4:c.28-223207T>C	NM_018723.4:c.28-223207T>G
RBFOX1 transcript variant X1	XM_005255378.1:c.505-223208=	XM_005255378.1:c.505-223208T>A	XM_005255378.1:c.505-223208T>C	XM_005255378.1:c.505-223208T>G
RBFOX1 transcript variant X2	XM_005255379.1:c.157-223208=	XM_005255379.1:c.157-223208T>A	XM_005255379.1:c.157-223208T>C	XM_005255379.1:c.157-223208T>G
RBFOX1 transcript variant X3	XM_005255380.1:c.136-223208=	XM_005255380.1:c.136-223208T>A	XM_005255380.1:c.136-223208T>C	XM_005255380.1:c.136-223208T>G
RBFOX1 transcript variant X7	XM_005255384.1:c.28-223208=	XM_005255384.1:c.28-223208T>A	XM_005255384.1:c.28-223208T>C	XM_005255384.1:c.28-223208T>G
RBFOX1 transcript variant X8	XM_005255385.1:c.28-223208=	XM_005255385.1:c.28-223208T>A	XM_005255385.1:c.28-223208T>C	XM_005255385.1:c.28-223208T>G
RBFOX1 transcript variant X12	XM_005255389.1:c.157-223208=	XM_005255389.1:c.157-223208T>A	XM_005255389.1:c.157-223208T>C	XM_005255389.1:c.157-223208T>G
RBFOX1 transcript variant X13	XM_005255390.1:c.28-223208=	XM_005255390.1:c.28-223208T>A	XM_005255390.1:c.28-223208T>C	XM_005255390.1:c.28-223208T>G
RBFOX1 transcript variant X14	XM_005255391.1:c.28-223208=	XM_005255391.1:c.28-223208T>A	XM_005255391.1:c.28-223208T>C	XM_005255391.1:c.28-223208T>G
RBFOX1 transcript variant X9	XM_005255391.5:c.28-223207=	XM_005255391.5:c.28-223207T>A	XM_005255391.5:c.28-223207T>C	XM_005255391.5:c.28-223207T>G
RBFOX1 transcript variant X15	XM_005255392.1:c.28-223208=	XM_005255392.1:c.28-223208T>A	XM_005255392.1:c.28-223208T>C	XM_005255392.1:c.28-223208T>G
RBFOX1 transcript variant X18	XM_005255395.1:c.136-223208=	XM_005255395.1:c.136-223208T>A	XM_005255395.1:c.136-223208T>C	XM_005255395.1:c.136-223208T>G
RBFOX1 transcript variant X1	XM_017023318.3:c.625-223207=	XM_017023318.3:c.625-223207T>A	XM_017023318.3:c.625-223207T>C	XM_017023318.3:c.625-223207T>G
RBFOX1 transcript variant X4	XM_017023319.3:c.505-223207=	XM_017023319.3:c.505-223207T>A	XM_017023319.3:c.505-223207T>C	XM_017023319.3:c.505-223207T>G
RBFOX1 transcript variant X3	XM_017023320.3:c.157-223207=	XM_017023320.3:c.157-223207T>A	XM_017023320.3:c.157-223207T>C	XM_017023320.3:c.157-223207T>G
RBFOX1 transcript variant X4	XM_017023321.3:c.136-223207=	XM_017023321.3:c.136-223207T>A	XM_017023321.3:c.136-223207T>C	XM_017023321.3:c.136-223207T>G
RBFOX1 transcript variant X8	XM_017023322.3:c.136-223207=	XM_017023322.3:c.136-223207T>A	XM_017023322.3:c.136-223207T>C	XM_017023322.3:c.136-223207T>G
RBFOX1 transcript variant X12	XM_017023324.3:c.157-223207=	XM_017023324.3:c.157-223207T>A	XM_017023324.3:c.157-223207T>C	XM_017023324.3:c.157-223207T>G
RBFOX1 transcript variant X20	XM_017023328.3:c.157-223207=	XM_017023328.3:c.157-223207T>A	XM_017023328.3:c.157-223207T>C	XM_017023328.3:c.157-223207T>G
RBFOX1 transcript variant X22	XM_017023329.3:c.157-223207=	XM_017023329.3:c.157-223207T>A	XM_017023329.3:c.157-223207T>C	XM_017023329.3:c.157-223207T>G
RBFOX1 transcript variant X24	XM_017023330.2:c.136-223207=	XM_017023330.2:c.136-223207T>A	XM_017023330.2:c.136-223207T>C	XM_017023330.2:c.136-223207T>G
RBFOX1 transcript variant X43	XM_017023340.2:c.28-223207=	XM_017023340.2:c.28-223207T>A	XM_017023340.2:c.28-223207T>C	XM_017023340.2:c.28-223207T>G
RBFOX1 transcript variant X2	XM_024450303.2:c.586-223207=	XM_024450303.2:c.586-223207T>A	XM_024450303.2:c.586-223207T>C	XM_024450303.2:c.586-223207T>G
RBFOX1 transcript variant X13	XM_024450304.2:c.136-223207=	XM_024450304.2:c.136-223207T>A	XM_024450304.2:c.136-223207T>C	XM_024450304.2:c.136-223207T>G
RBFOX1 transcript variant X7	XM_024450305.2:c.136-223207=	XM_024450305.2:c.136-223207T>A	XM_024450305.2:c.136-223207T>C	XM_024450305.2:c.136-223207T>G
RBFOX1 transcript variant X33	XM_024450309.2:c.157-223207=	XM_024450309.2:c.157-223207T>A	XM_024450309.2:c.157-223207T>C	XM_024450309.2:c.157-223207T>G
RBFOX1 transcript variant X34	XM_024450310.2:c.157-223207=	XM_024450310.2:c.157-223207T>A	XM_024450310.2:c.157-223207T>C	XM_024450310.2:c.157-223207T>G
RBFOX1 transcript variant X35	XM_024450311.2:c.136-223207=	XM_024450311.2:c.136-223207T>A	XM_024450311.2:c.136-223207T>C	XM_024450311.2:c.136-223207T>G
RBFOX1 transcript variant X36	XM_024450312.2:c.136-223207=	XM_024450312.2:c.136-223207T>A	XM_024450312.2:c.136-223207T>C	XM_024450312.2:c.136-223207T>G
RBFOX1 transcript variant X37	XM_024450313.2:c.136-223207=	XM_024450313.2:c.136-223207T>A	XM_024450313.2:c.136-223207T>C	XM_024450313.2:c.136-223207T>G
RBFOX1 transcript variant X42	XM_024450314.2:c.157-223207=	XM_024450314.2:c.157-223207T>A	XM_024450314.2:c.157-223207T>C	XM_024450314.2:c.157-223207T>G
RBFOX1 transcript variant X3	XM_047434241.1:c.505-223207=	XM_047434241.1:c.505-223207T>A	XM_047434241.1:c.505-223207T>C	XM_047434241.1:c.505-223207T>G
RBFOX1 transcript variant X6	XM_047434242.1:c.157-223207=	XM_047434242.1:c.157-223207T>A	XM_047434242.1:c.157-223207T>C	XM_047434242.1:c.157-223207T>G
RBFOX1 transcript variant X10	XM_047434244.1:c.28-223207=	XM_047434244.1:c.28-223207T>A	XM_047434244.1:c.28-223207T>C	XM_047434244.1:c.28-223207T>G
RBFOX1 transcript variant X19	XM_047434245.1:c.136-223207=	XM_047434245.1:c.136-223207T>A	XM_047434245.1:c.136-223207T>C	XM_047434245.1:c.136-223207T>G
RBFOX1 transcript variant X26	XM_047434247.1:c.136-223207=	XM_047434247.1:c.136-223207T>A	XM_047434247.1:c.136-223207T>C	XM_047434247.1:c.136-223207T>G

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#.

74 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss90305600	Mar 24, 2008 (129)
2	BGI	ss106458256	Feb 05, 2009 (130)
3	1000GENOMES	ss109164106	Jan 23, 2009 (130)
4	ENSEMBL	ss136571657	Dec 01, 2009 (131)
5	GMI	ss157050574	Dec 01, 2009 (131)
6	COMPLETE_GENOMICS	ss167753423	Jul 04, 2010 (132)
7	COMPLETE_GENOMICS	ss169043706	Jul 04, 2010 (132)
8	COMPLETE_GENOMICS	ss170901908	Jul 04, 2010 (132)
9	BCM-HGSC-SUB	ss207664610	Jul 04, 2010 (132)
10	1000GENOMES	ss211679469	Jul 14, 2010 (132)
11	1000GENOMES	ss227125540	Jul 14, 2010 (132)
12	1000GENOMES	ss236940152	Jul 15, 2010 (132)
13	1000GENOMES	ss243297582	Jul 15, 2010 (132)
14	BL	ss255476140	May 09, 2011 (134)
15	GMI	ss282425093	May 04, 2012 (137)
16	GMI	ss287028602	Apr 25, 2013 (138)
17	ILLUMINA	ss479522198	May 04, 2012 (137)
18	ILLUMINA	ss483547024	May 04, 2012 (137)
19	ILLUMINA	ss533058726	Sep 08, 2015 (146)
20	TISHKOFF	ss564760262	Apr 25, 2013 (138)
21	SSMP	ss660506421	Apr 25, 2013 (138)
22	ILLUMINA	ss779602399	Aug 21, 2014 (142)
23	ILLUMINA	ss781002437	Aug 21, 2014 (142)
24	ILLUMINA	ss835074429	Aug 21, 2014 (142)
25	EVA-GONL	ss992251120	Aug 21, 2014 (142)
26	JMKIDD_LAB	ss1080461425	Aug 21, 2014 (142)
27	1000GENOMES	ss1355267058	Aug 21, 2014 (142)
28	DDI	ss1427768299	Apr 01, 2015 (144)
29	EVA_GENOME_DK	ss1577821477	Apr 01, 2015 (144)
30	EVA_UK10K_ALSPAC	ss1633946449	Apr 01, 2015 (144)
31	EVA_UK10K_TWINSUK	ss1676940482	Apr 01, 2015 (144)
32	EVA_DECODE	ss1696286924	Apr 01, 2015 (144)
33	HAMMER_LAB	ss1808406519	Sep 08, 2015 (146)
34	WEILL_CORNELL_DGM	ss1935663810	Feb 12, 2016 (147)
35	GENOMED	ss1968212654	Jul 19, 2016 (147)
36	JJLAB	ss2028617043	Sep 14, 2016 (149)
37	USC_VALOUEV	ss2157028523	Dec 20, 2016 (150)
38	HUMAN_LONGEVITY	ss2210386051	Dec 20, 2016 (150)
39	SYSTEMSBIOZJU	ss2628803319	Nov 08, 2017 (151)
40	ILLUMINA	ss2633290562	Nov 08, 2017 (151)
41	GRF	ss2701523725	Nov 08, 2017 (151)
42	GNOMAD	ss2939997157	Nov 08, 2017 (151)
43	SWEGEN	ss3014018228	Nov 08, 2017 (151)
44	BIOINF_KMB_FNS_UNIBA	ss3028133040	Nov 08, 2017 (151)
45	CSHL	ss3351321649	Nov 08, 2017 (151)
46	ILLUMINA	ss3627471713	Oct 12, 2018 (152)
47	ILLUMINA	ss3631278985	Oct 12, 2018 (152)
48	ILLUMINA	ss3641942595	Oct 12, 2018 (152)
49	EGCUT_WGS	ss3681140582	Jul 13, 2019 (153)
50	EVA_DECODE	ss3698782065	Jul 13, 2019 (153)
51	ACPOP	ss3741310023	Jul 13, 2019 (153)
52	EVA	ss3753649436	Jul 13, 2019 (153)
53	PACBIO	ss3787971914	Jul 13, 2019 (153)
54	PACBIO	ss3792965863	Jul 13, 2019 (153)
55	PACBIO	ss3797850776	Jul 13, 2019 (153)
56	KHV_HUMAN_GENOMES	ss3818946636	Jul 13, 2019 (153)
57	EVA	ss3834459179	Apr 27, 2020 (154)
58	SGDP_PRJ	ss3883879676	Apr 27, 2020 (154)
59	KRGDB	ss3933169882	Apr 27, 2020 (154)
60	TOPMED	ss5006804776	Apr 27, 2021 (155)
61	TOMMO_GENOMICS	ss5218292379	Apr 27, 2021 (155)
62	1000G_HIGH_COVERAGE	ss5300032796	Oct 16, 2022 (156)
63	EVA	ss5315821614	Oct 16, 2022 (156)
64	HUGCELL_USP	ss5493570234	Oct 16, 2022 (156)
65	EVA	ss5511554904	Oct 16, 2022 (156)
66	1000G_HIGH_COVERAGE	ss5602212932	Oct 16, 2022 (156)
67	SANFORD_IMAGENETICS	ss5658405603	Oct 16, 2022 (156)
68	TOMMO_GENOMICS	ss5772734378	Oct 16, 2022 (156)
69	TOMMO_GENOMICS	ss5772734379	Oct 16, 2022 (156)
70	YY_MCH	ss5815732591	Oct 16, 2022 (156)
71	EVA	ss5846063677	Oct 16, 2022 (156)
72	EVA	ss5851477734	Oct 16, 2022 (156)
73	EVA	ss5898169521	Oct 16, 2022 (156)
74	EVA	ss5949834660	Oct 16, 2022 (156)
75	1000Genomes	NC_000016.9 - 7344941	Oct 12, 2018 (152)
76	1000Genomes_30x	NC_000016.10 - 7294940	Oct 16, 2022 (156)
77	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 7344941	Oct 12, 2018 (152)
78	Genetic variation in the Estonian population	NC_000016.9 - 7344941	Oct 12, 2018 (152)
79	The Danish reference pan genome	NC_000016.9 - 7344941	Apr 27, 2020 (154)
80	gnomAD - Genomes	NC_000016.10 - 7294940	Apr 27, 2021 (155)
81	Genome of the Netherlands Release 5	NC_000016.9 - 7344941	Apr 27, 2020 (154)
82	KOREAN population from KRGDB	NC_000016.9 - 7344941	Apr 27, 2020 (154)
83	Northern Sweden	NC_000016.9 - 7344941	Jul 13, 2019 (153)
84	Qatari	NC_000016.9 - 7344941	Apr 27, 2020 (154)
85	SGDP_PRJ	NC_000016.9 - 7344941	Apr 27, 2020 (154)
86	Siberian	NC_000016.9 - 7344941	Apr 27, 2020 (154)
87	8.3KJPN	NC_000016.9 - 7344941	Apr 27, 2021 (155)
88	14KJPN Submission ignored due to conflicting rows: Row 106571482 (NC_000016.10:7294939:T:G 22392/28258) Row 106571483 (NC_000016.10:7294939:T:A 1/28258)	-	Oct 16, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 106571482 (NC_000016.10:7294939:T:G 22392/28258) Row 106571483 (NC_000016.10:7294939:T:A 1/28258)	-	Oct 16, 2022 (156)
90	TopMed	NC_000016.10 - 7294940	Apr 27, 2021 (155)
91	UK 10K study - Twins	NC_000016.9 - 7344941	Oct 12, 2018 (152)
92	A Vietnamese Genetic Variation Database	NC_000016.9 - 7344941	Jul 13, 2019 (153)
93	ALFA	NC_000016.10 - 7294940	Apr 27, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
40347276, ss3933169882	NC_000016.9:7344940:T:A	NC_000016.10:7294939:T:A	(self)
8142097008, ss5772734379	NC_000016.10:7294939:T:A	NC_000016.10:7294939:T:A	(self)
40347276, ss3933169882	NC_000016.9:7344940:T:C	NC_000016.10:7294939:T:C	(self)
ss90305600, ss109164106, ss167753423, ss169043706, ss170901908, ss207664610, ss211679469, ss255476140, ss282425093, ss287028602, ss483547024, ss1696286924	NC_000016.8:7284941:T:G	NC_000016.10:7294939:T:G	(self)
68399091, 37975517, 26878830, 4037706, 16940619, 40347276, 14594888, 17705732, 35896656, 9544877, 76261686, 37975517, 8439863, ss227125540, ss236940152, ss243297582, ss479522198, ss533058726, ss564760262, ss660506421, ss779602399, ss781002437, ss835074429, ss992251120, ss1080461425, ss1355267058, ss1427768299, ss1577821477, ss1633946449, ss1676940482, ss1808406519, ss1935663810, ss1968212654, ss2028617043, ss2157028523, ss2628803319, ss2633290562, ss2701523725, ss2939997157, ss3014018228, ss3351321649, ss3627471713, ss3631278985, ss3641942595, ss3681140582, ss3741310023, ss3753649436, ss3787971914, ss3792965863, ss3797850776, ss3834459179, ss3883879676, ss3933169882, ss5218292379, ss5315821614, ss5511554904, ss5658405603, ss5846063677, ss5949834660	NC_000016.9:7344940:T:G	NC_000016.10:7294939:T:G	(self)
89738867, 482018669, 222350437, 8142097008, ss2210386051, ss3028133040, ss3698782065, ss3818946636, ss5006804776, ss5300032796, ss5493570234, ss5602212932, ss5772734378, ss5815732591, ss5851477734, ss5898169521	NC_000016.10:7294939:T:G	NC_000016.10:7294939:T:G	(self)
ss106458256, ss136571657, ss157050574	NT_010393.16:7284940:T:G	NC_000016.10:7294939:T:G	(self)

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

No publications for rs62014006

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs62014006