Name: rs12142199
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.

rs12142199

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:1313807 (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>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.485107 (128403/264690, TOPMED)
G=0.423222 (105968/250384, GnomAD_exome)
G=0.259165 (44596/172076, ALFA) (+ 21 more)
G=0.420928 (50668/120372, ExAC)
A=0.00697 (197/28258, 14KJPN)
A=0.00662 (111/16760, 8.3KJPN)
G=0.41357 (5378/13004, GO-ESP)
A=0.3095 (1982/6404, 1000G_30x)
A=0.3101 (1553/5008, 1000G)
G=0.2132 (955/4480, Estonian)
G=0.2146 (827/3854, ALSPAC)
G=0.2104 (780/3708, TWINSUK)
A=0.0154 (45/2922, KOREAN)
A=0.2838 (537/1892, HapMap)
A=0.0147 (27/1832, Korea1K)
G=0.183 (183/998, GoNL)
A=0.016 (10/616, Vietnamese)
G=0.215 (129/600, NorthernSweden)
G=0.257 (137/534, MGP)
G=0.240 (73/304, FINRISK)
G=0.394 (85/216, Qatari)
G=0.238 (50/210, SGDP_PRJ)
G=0.24 (24/98, Ancient Sardinia)
G=0.30 (13/44, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: INTS11 : Missense Variant
MIR6727 : 2KB Upstream Variant
Publications: 1 citation
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	188532	G=0.271084	A=0.728916, C=0.000000, T=0.000000	0.11301	0.570842	0.316148	32
European	Sub	153134	G=0.199335	A=0.800665, C=0.000000, T=0.000000	0.041793	0.643123	0.315084	7
African	Sub	13930	G=0.83970	A=0.16030, C=0.00000, T=0.00000	0.719167	0.03977	0.241062	32
African Others	Sub	512	G=0.961	A=0.039, C=0.000, T=0.000	0.929688	0.007812	0.0625	4
African American	Sub	13418	G=0.83507	A=0.16493, C=0.00000, T=0.00000	0.711134	0.04099	0.247876	34
Asian	Sub	678	G=0.988	A=0.012, C=0.000, T=0.000	0.976401	0.0	0.023599	0
East Asian	Sub	516	G=0.988	A=0.012, C=0.000, T=0.000	0.976744	0.0	0.023256	0
Other Asian	Sub	162	G=0.988	A=0.012, C=0.000, T=0.000	0.975309	0.0	0.024691	0
Latin American 1	Sub	980	G=0.468	A=0.532, C=0.000, T=0.000	0.220408	0.283673	0.495918	0
Latin American 2	Sub	5786	G=0.6248	A=0.3752, C=0.0000, T=0.0000	0.403042	0.153474	0.443484	5
South Asian	Sub	138	G=0.674	A=0.326, C=0.000, T=0.000	0.521739	0.173913	0.304348	4
Other	Sub	13886	G=0.29159	A=0.70841, C=0.00000, T=0.00000	0.115656	0.532479	0.351865	32

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	G=0.485107	A=0.514893
gnomAD - Exomes	Global	Study-wide	250384	G=0.423222	A=0.576778
gnomAD - Exomes	European	Sub	134540	G=0.213297	A=0.786703
gnomAD - Exomes	Asian	Sub	48992	G=0.74884	A=0.25116
gnomAD - Exomes	American	Sub	34564	G=0.66312	A=0.33688
gnomAD - Exomes	African	Sub	16160	G=0.85248	A=0.14752
gnomAD - Exomes	Ashkenazi Jewish	Sub	10020	G=0.18273	A=0.81727
gnomAD - Exomes	Other	Sub	6108	G=0.3368	A=0.6632
Allele Frequency Aggregator	Total	Global	172076	G=0.259165	A=0.740835, C=0.000000, T=0.000000
Allele Frequency Aggregator	European	Sub	142968	G=0.199653	A=0.800347, C=0.000000, T=0.000000
Allele Frequency Aggregator	Other	Sub	12434	G=0.28961	A=0.71039, C=0.00000, T=0.00000
Allele Frequency Aggregator	African	Sub	9092	G=0.8374	A=0.1626, C=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	5786	G=0.6248	A=0.3752, C=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	980	G=0.468	A=0.532, C=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	678	G=0.988	A=0.012, C=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	138	G=0.674	A=0.326, C=0.000, T=0.000
ExAC	Global	Study-wide	120372	G=0.420928	A=0.579072
ExAC	Europe	Sub	72498	G=0.20878	A=0.79122
ExAC	Asian	Sub	25144	G=0.74085	A=0.25915
ExAC	American	Sub	11554	G=0.68478	A=0.31522
ExAC	African	Sub	10280	G=0.84397	A=0.15603
ExAC	Other	Sub	896	G=0.353	A=0.647
14KJPN	JAPANESE	Study-wide	28258	G=0.99303	A=0.00697
8.3KJPN	JAPANESE	Study-wide	16760	G=0.99338	A=0.00662
GO Exome Sequencing Project	Global	Study-wide	13004	G=0.41357	A=0.58643
GO Exome Sequencing Project	European American	Sub	8600	G=0.2022	A=0.7978
GO Exome Sequencing Project	African American	Sub	4404	G=0.8263	A=0.1737
1000Genomes_30x	Global	Study-wide	6404	G=0.6905	A=0.3095
1000Genomes_30x	African	Sub	1786	G=0.9418	A=0.0582
1000Genomes_30x	Europe	Sub	1266	G=0.1927	A=0.8073
1000Genomes_30x	South Asian	Sub	1202	G=0.6664	A=0.3336
1000Genomes_30x	East Asian	Sub	1170	G=0.9803	A=0.0197
1000Genomes_30x	American	Sub	980	G=0.559	A=0.441
1000Genomes	Global	Study-wide	5008	G=0.6899	A=0.3101
1000Genomes	African	Sub	1322	G=0.9349	A=0.0651
1000Genomes	East Asian	Sub	1008	G=0.9812	A=0.0188
1000Genomes	Europe	Sub	1006	G=0.1948	A=0.8052
1000Genomes	South Asian	Sub	978	G=0.660	A=0.340
1000Genomes	American	Sub	694	G=0.561	A=0.439
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.2132	A=0.7868
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.2146	A=0.7854
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.2104	A=0.7896
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.9846	A=0.0154
HapMap	Global	Study-wide	1892	G=0.7162	A=0.2838
HapMap	American	Sub	770	G=0.584	A=0.416
HapMap	African	Sub	692	G=0.906	A=0.094
HapMap	Asian	Sub	254	G=0.992	A=0.008
HapMap	Europe	Sub	176	G=0.148	A=0.852
Korean Genome Project	KOREAN	Study-wide	1832	G=0.9853	A=0.0147
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.183	A=0.817
A Vietnamese Genetic Variation Database	Global	Study-wide	616	G=0.984	A=0.016
Northern Sweden	ACPOP	Study-wide	600	G=0.215	A=0.785
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.257	A=0.743
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.240	A=0.760
Qatari	Global	Study-wide	216	G=0.394	A=0.606
SGDP_PRJ	Global	Study-wide	210	G=0.238	A=0.762
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	98	G=0.24	A=0.76
Siberian	Global	Study-wide	44	G=0.30	A=0.70

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 1	NC_000001.11:g.1313807G>A
GRCh38.p14 chr 1	NC_000001.11:g.1313807G>C
GRCh38.p14 chr 1	NC_000001.11:g.1313807G>T
GRCh37.p13 chr 1	NC_000001.10:g.1249187G>A
GRCh37.p13 chr 1	NC_000001.10:g.1249187G>C
GRCh37.p13 chr 1	NC_000001.10:g.1249187G>T

Gene: INTS11, integrator complex subunit 11 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
INTS11 transcript variant 5	NM_001256463.2:c.579C>T	F [TTC] > F [TTT]	Coding Sequence Variant
integrator complex subunit 11 isoform 5	NP_001243392.1:p.Phe193=	F (Phe) > F (Phe)	Synonymous Variant
INTS11 transcript variant 5	NM_001256463.2:c.579C>G	F [TTC] > L [TTG]	Coding Sequence Variant
integrator complex subunit 11 isoform 5	NP_001243392.1:p.Phe193Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant 5	NM_001256463.2:c.579C>A	F [TTC] > L [TTA]	Coding Sequence Variant
integrator complex subunit 11 isoform 5	NP_001243392.1:p.Phe193Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant 2	NM_017871.6:c.882C>T	F [TTC] > F [TTT]	Coding Sequence Variant
integrator complex subunit 11 isoform 2	NP_060341.2:p.Phe294=	F (Phe) > F (Phe)	Synonymous Variant
INTS11 transcript variant 2	NM_017871.6:c.882C>G	F [TTC] > L [TTG]	Coding Sequence Variant
integrator complex subunit 11 isoform 2	NP_060341.2:p.Phe294Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant 2	NM_017871.6:c.882C>A	F [TTC] > L [TTA]	Coding Sequence Variant
integrator complex subunit 11 isoform 2	NP_060341.2:p.Phe294Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant 4	NM_001256462.2:c.588C>T	F [TTC] > F [TTT]	Coding Sequence Variant
integrator complex subunit 11 isoform 4	NP_001243391.1:p.Phe196=	F (Phe) > F (Phe)	Synonymous Variant
INTS11 transcript variant 4	NM_001256462.2:c.588C>G	F [TTC] > L [TTG]	Coding Sequence Variant
integrator complex subunit 11 isoform 4	NP_001243391.1:p.Phe196Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant 4	NM_001256462.2:c.588C>A	F [TTC] > L [TTA]	Coding Sequence Variant
integrator complex subunit 11 isoform 4	NP_001243391.1:p.Phe196Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant 1	NM_001256456.2:c.900C>T	F [TTC] > F [TTT]	Coding Sequence Variant
integrator complex subunit 11 isoform 1	NP_001243385.1:p.Phe300=	F (Phe) > F (Phe)	Synonymous Variant
INTS11 transcript variant 1	NM_001256456.2:c.900C>G	F [TTC] > L [TTG]	Coding Sequence Variant
integrator complex subunit 11 isoform 1	NP_001243385.1:p.Phe300Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant 1	NM_001256456.2:c.900C>A	F [TTC] > L [TTA]	Coding Sequence Variant
integrator complex subunit 11 isoform 1	NP_001243385.1:p.Phe300Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant 3	NM_001256460.2:c.795C>T	F [TTC] > F [TTT]	Coding Sequence Variant
integrator complex subunit 11 isoform 3	NP_001243389.1:p.Phe265=	F (Phe) > F (Phe)	Synonymous Variant
INTS11 transcript variant 3	NM_001256460.2:c.795C>G	F [TTC] > L [TTG]	Coding Sequence Variant
integrator complex subunit 11 isoform 3	NP_001243389.1:p.Phe265Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant 3	NM_001256460.2:c.795C>A	F [TTC] > L [TTA]	Coding Sequence Variant
integrator complex subunit 11 isoform 3	NP_001243389.1:p.Phe265Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant X1	XM_011541647.2:c.1062C>T	F [TTC] > F [TTT]	Coding Sequence Variant
integrator complex subunit 11 isoform X1	XP_011539949.1:p.Phe354=	F (Phe) > F (Phe)	Synonymous Variant
INTS11 transcript variant X1	XM_011541647.2:c.1062C>G	F [TTC] > L [TTG]	Coding Sequence Variant
integrator complex subunit 11 isoform X1	XP_011539949.1:p.Phe354Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant X1	XM_011541647.2:c.1062C>A	F [TTC] > L [TTA]	Coding Sequence Variant
integrator complex subunit 11 isoform X1	XP_011539949.1:p.Phe354Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant X2	XM_011541648.2:c.948C>T	F [TTC] > F [TTT]	Coding Sequence Variant
integrator complex subunit 11 isoform X2	XP_011539950.1:p.Phe316=	F (Phe) > F (Phe)	Synonymous Variant
INTS11 transcript variant X2	XM_011541648.2:c.948C>G	F [TTC] > L [TTG]	Coding Sequence Variant
integrator complex subunit 11 isoform X2	XP_011539950.1:p.Phe316Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant X2	XM_011541648.2:c.948C>A	F [TTC] > L [TTA]	Coding Sequence Variant
integrator complex subunit 11 isoform X2	XP_011539950.1:p.Phe316Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant X3	XM_011541650.3:c.510C>T	F [TTC] > F [TTT]	Coding Sequence Variant
integrator complex subunit 11 isoform X3	XP_011539952.1:p.Phe170=	F (Phe) > F (Phe)	Synonymous Variant
INTS11 transcript variant X3	XM_011541650.3:c.510C>G	F [TTC] > L [TTG]	Coding Sequence Variant
integrator complex subunit 11 isoform X3	XP_011539952.1:p.Phe170Leu	F (Phe) > L (Leu)	Missense Variant
INTS11 transcript variant X3	XM_011541650.3:c.510C>A	F [TTC] > L [TTA]	Coding Sequence Variant
integrator complex subunit 11 isoform X3	XP_011539952.1:p.Phe170Leu	F (Phe) > L (Leu)	Missense Variant

Gene: MIR6727, microRNA 6727 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
MIR6727 transcript	NR_106785.1:n.	N/A	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.

Allele: A (allele ID: 1280725 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001715580.1	not provided	Benign

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	C	T
GRCh38.p14 chr 1	NC_000001.11:g.1313807=	NC_000001.11:g.1313807G>A	NC_000001.11:g.1313807G>C	NC_000001.11:g.1313807G>T
GRCh37.p13 chr 1	NC_000001.10:g.1249187=	NC_000001.10:g.1249187G>A	NC_000001.10:g.1249187G>C	NC_000001.10:g.1249187G>T
INTS11 transcript variant 2	NM_017871.6:c.882=	NM_017871.6:c.882C>T	NM_017871.6:c.882C>G	NM_017871.6:c.882C>A
INTS11 transcript variant 2	NM_017871.5:c.882=	NM_017871.5:c.882C>T	NM_017871.5:c.882C>G	NM_017871.5:c.882C>A
INTS11 transcript variant X3	XM_011541650.3:c.510=	XM_011541650.3:c.510C>T	XM_011541650.3:c.510C>G	XM_011541650.3:c.510C>A
INTS11 transcript variant X4	XM_011541650.2:c.510=	XM_011541650.2:c.510C>T	XM_011541650.2:c.510C>G	XM_011541650.2:c.510C>A
CPSF3L transcript variant X4	XM_011541650.1:c.510=	XM_011541650.1:c.510C>T	XM_011541650.1:c.510C>G	XM_011541650.1:c.510C>A
INTS11 transcript variant 1	NM_001256456.2:c.900=	NM_001256456.2:c.900C>T	NM_001256456.2:c.900C>G	NM_001256456.2:c.900C>A
INTS11 transcript variant 1	NM_001256456.1:c.900=	NM_001256456.1:c.900C>T	NM_001256456.1:c.900C>G	NM_001256456.1:c.900C>A
INTS11 transcript variant X2	XM_011541648.2:c.948=	XM_011541648.2:c.948C>T	XM_011541648.2:c.948C>G	XM_011541648.2:c.948C>A
INTS11 transcript variant X2	XM_011541648.1:c.948=	XM_011541648.1:c.948C>T	XM_011541648.1:c.948C>G	XM_011541648.1:c.948C>A
INTS11 transcript variant X1	XM_011541647.2:c.1062=	XM_011541647.2:c.1062C>T	XM_011541647.2:c.1062C>G	XM_011541647.2:c.1062C>A
INTS11 transcript variant X1	XM_011541647.1:c.1062=	XM_011541647.1:c.1062C>T	XM_011541647.1:c.1062C>G	XM_011541647.1:c.1062C>A
INTS11 transcript variant 3	NM_001256460.2:c.795=	NM_001256460.2:c.795C>T	NM_001256460.2:c.795C>G	NM_001256460.2:c.795C>A
INTS11 transcript variant 3	NM_001256460.1:c.795=	NM_001256460.1:c.795C>T	NM_001256460.1:c.795C>G	NM_001256460.1:c.795C>A
INTS11 transcript variant 4	NM_001256462.2:c.588=	NM_001256462.2:c.588C>T	NM_001256462.2:c.588C>G	NM_001256462.2:c.588C>A
INTS11 transcript variant 4	NM_001256462.1:c.588=	NM_001256462.1:c.588C>T	NM_001256462.1:c.588C>G	NM_001256462.1:c.588C>A
INTS11 transcript variant 5	NM_001256463.2:c.579=	NM_001256463.2:c.579C>T	NM_001256463.2:c.579C>G	NM_001256463.2:c.579C>A
INTS11 transcript variant 5	NM_001256463.1:c.579=	NM_001256463.1:c.579C>T	NM_001256463.1:c.579C>G	NM_001256463.1:c.579C>A
CPSF3L transcript variant 2	NM_032179.1:c.817=	NM_032179.1:c.817C>T	NM_032179.1:c.817C>G	NM_032179.1:c.817C>A
integrator complex subunit 11 isoform 2	NP_060341.2:p.Phe294=	NP_060341.2:p.Phe294=	NP_060341.2:p.Phe294Leu	NP_060341.2:p.Phe294Leu
integrator complex subunit 11 isoform X3	XP_011539952.1:p.Phe170=	XP_011539952.1:p.Phe170=	XP_011539952.1:p.Phe170Leu	XP_011539952.1:p.Phe170Leu
integrator complex subunit 11 isoform 1	NP_001243385.1:p.Phe300=	NP_001243385.1:p.Phe300=	NP_001243385.1:p.Phe300Leu	NP_001243385.1:p.Phe300Leu
integrator complex subunit 11 isoform X2	XP_011539950.1:p.Phe316=	XP_011539950.1:p.Phe316=	XP_011539950.1:p.Phe316Leu	XP_011539950.1:p.Phe316Leu
integrator complex subunit 11 isoform X1	XP_011539949.1:p.Phe354=	XP_011539949.1:p.Phe354=	XP_011539949.1:p.Phe354Leu	XP_011539949.1:p.Phe354Leu
integrator complex subunit 11 isoform 3	NP_001243389.1:p.Phe265=	NP_001243389.1:p.Phe265=	NP_001243389.1:p.Phe265Leu	NP_001243389.1:p.Phe265Leu
integrator complex subunit 11 isoform 4	NP_001243391.1:p.Phe196=	NP_001243391.1:p.Phe196=	NP_001243391.1:p.Phe196Leu	NP_001243391.1:p.Phe196Leu
integrator complex subunit 11 isoform 5	NP_001243392.1:p.Phe193=	NP_001243392.1:p.Phe193=	NP_001243392.1:p.Phe193Leu	NP_001243392.1:p.Phe193Leu

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#.

135 SubSNP, 26 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18291173	Feb 28, 2004 (120)
2	SSAHASNP	ss20514600	Apr 05, 2004 (121)
3	MGC_GENOME_DIFF	ss28504584	Sep 24, 2004 (126)
4	MGC_GENOME_DIFF	ss28504595	Sep 24, 2004 (126)
5	MGC_GENOME_DIFF	ss28506070	Sep 24, 2004 (126)
6	APPLERA_GI	ss48418332	Mar 10, 2006 (126)
7	PERLEGEN	ss68756332	May 16, 2007 (127)
8	AFFY	ss74813087	Aug 16, 2007 (128)
9	ILLUMINA	ss75064772	Dec 07, 2007 (129)
10	HGSV	ss78325262	Dec 07, 2007 (129)
11	BCMHGSC_JDW	ss87159005	Mar 23, 2008 (129)
12	HUMANGENOME_JCVI	ss99179836	Feb 06, 2009 (130)
13	1000GENOMES	ss107938648	Jan 22, 2009 (130)
14	ENSEMBL	ss131647967	Dec 01, 2009 (131)
15	SEATTLESEQ	ss159695720	Dec 01, 2009 (131)
16	ILLUMINA	ss160036941	Dec 01, 2009 (131)
17	COMPLETE_GENOMICS	ss163709768	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss165983459	Jul 04, 2010 (132)
19	ILLUMINA	ss171890945	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss205221790	Jul 04, 2010 (132)
21	1000GENOMES	ss218192919	Jul 14, 2010 (132)
22	1000GENOMES	ss230397083	Jul 14, 2010 (132)
23	1000GENOMES	ss238116519	Jul 15, 2010 (132)
24	ILLUMINA	ss244275520	Jul 04, 2010 (132)
25	BL	ss252866695	May 09, 2011 (134)
26	GMI	ss283988202	Apr 25, 2013 (138)
27	PJP	ss290494542	May 09, 2011 (134)
28	NHLBI-ESP	ss341925102	May 09, 2011 (134)
29	ILLUMINA	ss479681389	May 04, 2012 (137)
30	ILLUMINA	ss479686902	May 04, 2012 (137)
31	ILLUMINA	ss480213431	Sep 08, 2015 (146)
32	ILLUMINA	ss484639247	May 04, 2012 (137)
33	1000GENOMES	ss489714948	May 04, 2012 (137)
34	CLINSEQ_SNP	ss491582021	May 04, 2012 (137)
35	ILLUMINA	ss536758512	Sep 08, 2015 (146)
36	TISHKOFF	ss553716066	Apr 25, 2013 (138)
37	SSMP	ss647519796	Apr 25, 2013 (138)
38	ILLUMINA	ss778775308	Sep 08, 2015 (146)
39	ILLUMINA	ss782766462	Sep 08, 2015 (146)
40	ILLUMINA	ss783732747	Sep 08, 2015 (146)
41	ILLUMINA	ss832018811	Sep 08, 2015 (146)
42	ILLUMINA	ss834235197	Sep 08, 2015 (146)
43	JMKIDD_LAB	ss974432540	Aug 21, 2014 (142)
44	EVA-GONL	ss974773929	Aug 21, 2014 (142)
45	JMKIDD_LAB	ss1067414573	Aug 21, 2014 (142)
46	JMKIDD_LAB	ss1067614703	Aug 21, 2014 (142)
47	1000GENOMES	ss1289358619	Aug 21, 2014 (142)
48	DDI	ss1425686192	Apr 01, 2015 (144)
49	EVA_FINRISK	ss1584003711	Apr 01, 2015 (144)
50	EVA_DECODE	ss1584133894	Apr 01, 2015 (144)
51	EVA_UK10K_ALSPAC	ss1599386139	Apr 01, 2015 (144)
52	EVA_UK10K_TWINSUK	ss1642380172	Apr 01, 2015 (144)
53	EVA_EXAC	ss1685231470	Apr 01, 2015 (144)
54	EVA_MGP	ss1710883967	Apr 01, 2015 (144)
55	EVA_SVP	ss1712305645	Apr 01, 2015 (144)
56	ILLUMINA	ss1751867695	Sep 08, 2015 (146)
57	WEILL_CORNELL_DGM	ss1917966484	Feb 12, 2016 (147)
58	GENOMED	ss1966667957	Jul 19, 2016 (147)
59	JJLAB	ss2019500883	Sep 14, 2016 (149)
60	ILLUMINA	ss2094782215	Dec 20, 2016 (150)
61	ILLUMINA	ss2094948887	Dec 20, 2016 (150)
62	USC_VALOUEV	ss2147488004	Dec 20, 2016 (150)
63	HUMAN_LONGEVITY	ss2159402925	Dec 20, 2016 (150)
64	ILLUMINA	ss2632465970	Nov 08, 2017 (151)
65	GNOMAD	ss2731008831	Nov 08, 2017 (151)
66	GNOMAD	ss2746177566	Nov 08, 2017 (151)
67	GNOMAD	ss2750695285	Nov 08, 2017 (151)
68	AFFY	ss2984841444	Nov 08, 2017 (151)
69	AFFY	ss2985495032	Nov 08, 2017 (151)
70	SWEGEN	ss2986157735	Nov 08, 2017 (151)
71	EVA_SAMSUNG_MC	ss3023056084	Nov 08, 2017 (151)
72	BIOINF_KMB_FNS_UNIBA	ss3023514669	Nov 08, 2017 (151)
73	CSHL	ss3343275523	Nov 08, 2017 (151)
74	ILLUMINA	ss3626007514	Oct 11, 2018 (152)
75	ILLUMINA	ss3630505935	Oct 11, 2018 (152)
76	ILLUMINA	ss3633571539	Oct 11, 2018 (152)
77	ILLUMINA	ss3634302278	Oct 11, 2018 (152)
78	ILLUMINA	ss3635265741	Oct 11, 2018 (152)
79	ILLUMINA	ss3635978827	Oct 11, 2018 (152)
80	ILLUMINA	ss3637016082	Oct 11, 2018 (152)
81	ILLUMINA	ss3637732633	Oct 11, 2018 (152)
82	ILLUMINA	ss3640009644	Oct 11, 2018 (152)
83	ILLUMINA	ss3642746903	Oct 11, 2018 (152)
84	OMUKHERJEE_ADBS	ss3646219153	Oct 11, 2018 (152)
85	URBANLAB	ss3646582081	Oct 11, 2018 (152)
86	ILLUMINA	ss3651366346	Oct 11, 2018 (152)
87	ILLUMINA	ss3653615223	Oct 11, 2018 (152)
88	EGCUT_WGS	ss3654268847	Jul 12, 2019 (153)
89	EVA_DECODE	ss3686002327	Jul 12, 2019 (153)
90	ACPOP	ss3726720493	Jul 12, 2019 (153)
91	ILLUMINA	ss3744603208	Jul 12, 2019 (153)
92	EVA	ss3745726709	Jul 12, 2019 (153)
93	ILLUMINA	ss3772104959	Jul 12, 2019 (153)
94	PACBIO	ss3783303232	Jul 12, 2019 (153)
95	PACBIO	ss3788980967	Jul 12, 2019 (153)
96	PACBIO	ss3793853567	Jul 12, 2019 (153)
97	KHV_HUMAN_GENOMES	ss3798749460	Jul 12, 2019 (153)
98	EVA	ss3823544331	Apr 25, 2020 (154)
99	EVA	ss3825517445	Apr 25, 2020 (154)
100	EVA	ss3825549659	Apr 25, 2020 (154)
101	EVA	ss3825983615	Apr 25, 2020 (154)
102	EVA	ss3836379253	Apr 25, 2020 (154)
103	EVA	ss3841783282	Apr 25, 2020 (154)
104	SGDP_PRJ	ss3848009880	Apr 25, 2020 (154)
105	KRGDB	ss3892853155	Apr 25, 2020 (154)
106	KOGIC	ss3943640957	Apr 25, 2020 (154)
107	FSA-LAB	ss3983911042	Apr 25, 2021 (155)
108	FSA-LAB	ss3983911043	Apr 25, 2021 (155)
109	EVA	ss3984774141	Apr 25, 2021 (155)
110	EVA	ss3986007886	Apr 25, 2021 (155)
111	EVA	ss3986091873	Apr 25, 2021 (155)
112	TOPMED	ss4436583887	Apr 25, 2021 (155)
113	TOMMO_GENOMICS	ss5142077307	Apr 25, 2021 (155)
114	EVA	ss5236862616	Apr 25, 2021 (155)
115	EVA	ss5237158441	Apr 25, 2021 (155)
116	1000G_HIGH_COVERAGE	ss5240881091	Oct 12, 2022 (156)
117	EVA	ss5314586158	Oct 12, 2022 (156)
118	EVA	ss5316212878	Oct 12, 2022 (156)
119	HUGCELL_USP	ss5442126681	Oct 12, 2022 (156)
120	1000G_HIGH_COVERAGE	ss5512512691	Oct 12, 2022 (156)
121	EVA	ss5623912146	Oct 12, 2022 (156)
122	EVA	ss5623985747	Oct 12, 2022 (156)
123	SANFORD_IMAGENETICS	ss5624759500	Oct 12, 2022 (156)
124	TOMMO_GENOMICS	ss5666225725	Oct 12, 2022 (156)
125	EVA	ss5799406796	Oct 12, 2022 (156)
126	EVA	ss5799472611	Oct 12, 2022 (156)
127	EVA	ss5800076513	Oct 12, 2022 (156)
128	YY_MCH	ss5800248148	Oct 12, 2022 (156)
129	EVA	ss5831426233	Oct 12, 2022 (156)
130	EVA	ss5848243883	Oct 12, 2022 (156)
131	EVA	ss5906722978	Oct 12, 2022 (156)
132	EVA	ss5936507428	Oct 12, 2022 (156)
133	EVA	ss5936591432	Oct 12, 2022 (156)
134	EVA	ss5979926650	Oct 12, 2022 (156)
135	EVA	ss5981189384	Oct 12, 2022 (156)
136	1000Genomes	NC_000001.10 - 1249187	Oct 11, 2018 (152)
137	1000Genomes_30x	NC_000001.11 - 1313807	Oct 12, 2022 (156)
138	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 1249187	Oct 11, 2018 (152)
139	Genetic variation in the Estonian population	NC_000001.10 - 1249187	Oct 11, 2018 (152)
140	ExAC	NC_000001.10 - 1249187	Oct 11, 2018 (152)
141	FINRISK	NC_000001.10 - 1249187	Apr 25, 2020 (154)
142	gnomAD - Genomes Submission ignored due to conflicting rows: Row 197496 (NC_000001.11:1313806:G:A 77655/140142) Row 197497 (NC_000001.11:1313806:G:C 1/140180)	-	Apr 25, 2021 (155)
143	gnomAD - Genomes Submission ignored due to conflicting rows: Row 197496 (NC_000001.11:1313806:G:A 77655/140142) Row 197497 (NC_000001.11:1313806:G:C 1/140180)	-	Apr 25, 2021 (155)
144	gnomAD - Exomes	NC_000001.10 - 1249187	Jul 12, 2019 (153)
145	GO Exome Sequencing Project	NC_000001.10 - 1249187	Oct 11, 2018 (152)
146	Genome of the Netherlands Release 5	NC_000001.10 - 1249187	Apr 25, 2020 (154)
147	HapMap	NC_000001.11 - 1313807	Apr 25, 2020 (154)
148	KOREAN population from KRGDB	NC_000001.10 - 1249187	Apr 25, 2020 (154)
149	Korean Genome Project	NC_000001.11 - 1313807	Apr 25, 2020 (154)
150	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 1249187	Apr 25, 2020 (154)
151	Northern Sweden	NC_000001.10 - 1249187	Jul 12, 2019 (153)
152	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 1249187	Apr 25, 2021 (155)
153	Qatari	NC_000001.10 - 1249187	Apr 25, 2020 (154)
154	SGDP_PRJ	NC_000001.10 - 1249187	Apr 25, 2020 (154)
155	Siberian	NC_000001.10 - 1249187	Apr 25, 2020 (154)
156	8.3KJPN	NC_000001.10 - 1249187	Apr 25, 2021 (155)
157	14KJPN	NC_000001.11 - 1313807	Oct 12, 2022 (156)
158	TopMed	NC_000001.11 - 1313807	Apr 25, 2021 (155)
159	UK 10K study - Twins	NC_000001.10 - 1249187	Oct 11, 2018 (152)
160	A Vietnamese Genetic Variation Database	NC_000001.10 - 1249187	Jul 12, 2019 (153)
161	ALFA	NC_000001.11 - 1313807	Apr 25, 2021 (155)
162	ClinVar	RCV001715580.1	Oct 12, 2022 (156)

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)
rs17850282	Mar 10, 2006 (126)
rs17850293	Mar 10, 2006 (126)
rs17851768	Mar 10, 2006 (126)
rs52791574	Sep 21, 2007 (128)
rs386523011	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78325262	NC_000001.8:1289109:G:A	NC_000001.11:1313806:G:A	(self)
ss87159005, ss107938648, ss163709768, ss165983459, ss205221790, ss252866695, ss283988202, ss290494542, ss479681389, ss491582021, ss1584133894, ss1712305645, ss3642746903	NC_000001.9:1239049:G:A	NC_000001.11:1313806:G:A	(self)
23963, 8776, 7095, 4405622, 172, 23706, 3067, 3618, 30549, 719, 5358, 68, 8414, 26860, 4358, 46614, 8776, 1894, ss218192919, ss230397083, ss238116519, ss341925102, ss479686902, ss480213431, ss484639247, ss489714948, ss536758512, ss553716066, ss647519796, ss778775308, ss782766462, ss783732747, ss832018811, ss834235197, ss974432540, ss974773929, ss1067414573, ss1067614703, ss1289358619, ss1425686192, ss1584003711, ss1599386139, ss1642380172, ss1685231470, ss1710883967, ss1751867695, ss1917966484, ss1966667957, ss2019500883, ss2094782215, ss2094948887, ss2147488004, ss2632465970, ss2731008831, ss2746177566, ss2750695285, ss2984841444, ss2985495032, ss2986157735, ss3023056084, ss3343275523, ss3626007514, ss3630505935, ss3633571539, ss3634302278, ss3635265741, ss3635978827, ss3637016082, ss3637732633, ss3640009644, ss3646219153, ss3651366346, ss3653615223, ss3654268847, ss3726720493, ss3744603208, ss3745726709, ss3772104959, ss3783303232, ss3788980967, ss3793853567, ss3823544331, ss3825517445, ss3825549659, ss3825983615, ss3836379253, ss3848009880, ss3892853155, ss3983911042, ss3983911043, ss3984774141, ss3986007886, ss3986091873, ss5142077307, ss5314586158, ss5316212878, ss5623912146, ss5623985747, ss5624759500, ss5799406796, ss5799472611, ss5800076513, ss5831426233, ss5848243883, ss5936507428, ss5936591432, ss5979926650, ss5981189384	NC_000001.10:1249186:G:A	NC_000001.11:1313806:G:A	(self)
RCV001715580.1, 38626, 405, 18958, 62829, 190222, 4345959411, ss2159402925, ss3023514669, ss3646582081, ss3686002327, ss3798749460, ss3841783282, ss3943640957, ss4436583887, ss5236862616, ss5237158441, ss5240881091, ss5442126681, ss5512512691, ss5666225725, ss5800248148, ss5906722978	NC_000001.11:1313806:G:A	NC_000001.11:1313806:G:A	(self)
ss28504584, ss28504595, ss28506070, ss48418332, ss68756332, ss74813087, ss75064772, ss99179836, ss131647967, ss159695720, ss160036941, ss171890945, ss244275520	NT_004350.19:727818:G:A	NC_000001.11:1313806:G:A	(self)
ss18291173, ss20514600	NT_077913.2:252897:G:A	NC_000001.11:1313806:G:A	(self)
ss2746177566, ss2750695285	NC_000001.10:1249186:G:C	NC_000001.11:1313806:G:C	(self)
4345959411	NC_000001.11:1313806:G:C	NC_000001.11:1313806:G:C	(self)
4345959411	NC_000001.11:1313806:G:T	NC_000001.11:1313806:G:T	(self)

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

1 citation for rs12142199

PMID	Title	Author	Year	Journal
35176104	Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.	Rauf S et al.	2022	PloS one

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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs12142199