Name: rs331462
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.

rs331462

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:36479927 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.005739 (1519/264690, TOPMED)
T=0.005070 (711/140250, GnomAD)
T=0.00004 (1/28258, 14KJPN) (+ 15 more)
T=0.00000 (0/16758, 8.3KJPN)
T=0.0019 (15/7842, ALFA)
T=0.0048 (31/6404, 1000G_30x)
T=0.0052 (26/5008, 1000G)
T=0.0005 (2/3854, ALSPAC)
T=0.0000 (0/3708, TWINSUK)
T=0.0000 (0/2930, KOREAN)
T=0.0000 (0/1832, Korea1K)
T=0.000 (0/600, NorthernSweden)
T=0.002 (1/558, SGDP_PRJ)
T=0.003 (1/328, HapMap)
T=0.000 (0/216, Qatari)
T=0.000 (0/214, Vietnamese)
T=0.00 (0/56, Siberian)
T=0.00 (0/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	7842	T=0.0019	A=0.0000, C=0.9981
European	Sub	7190	T=0.0001	A=0.0000, C=0.9999
African	Sub	606	T=0.023	A=0.000, C=0.977
African Others	Sub	30	T=0.00	A=0.00, C=1.00
African American	Sub	576	T=0.024	A=0.000, C=0.976
Asian	Sub	4	T=0.0	A=0.0, C=1.0
East Asian	Sub	2	T=0.0	A=0.0, C=1.0
Other Asian	Sub	2	T=0.0	A=0.0, C=1.0
Latin American 1	Sub	0	T=0	A=0, C=0
Latin American 2	Sub	0	T=0	A=0, C=0
South Asian	Sub	4	T=0.0	A=0.0, C=1.0
Other	Sub	38	T=0.00	A=0.00, C=1.00

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=0.005739	C=0.994261
gnomAD - Genomes	Global	Study-wide	140250	T=0.005070	C=0.994930
gnomAD - Genomes	European	Sub	75964	T=0.00022	C=0.99978
gnomAD - Genomes	African	Sub	42022	T=0.01552	C=0.98448
gnomAD - Genomes	American	Sub	13656	T=0.00176	C=0.99824
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.0027	C=0.9973
gnomAD - Genomes	East Asian	Sub	3134	T=0.0000	C=1.0000
gnomAD - Genomes	Other	Sub	2150	T=0.0042	C=0.9958
14KJPN	JAPANESE	Study-wide	28258	T=0.00004	C=0.99996
8.3KJPN	JAPANESE	Study-wide	16758	T=0.00000	C=1.00000
Allele Frequency Aggregator	Total	Global	7842	T=0.0019	A=0.0000, C=0.9981
Allele Frequency Aggregator	European	Sub	7190	T=0.0001	A=0.0000, C=0.9999
Allele Frequency Aggregator	African	Sub	606	T=0.023	A=0.000, C=0.977
Allele Frequency Aggregator	Other	Sub	38	T=0.00	A=0.00, C=1.00
Allele Frequency Aggregator	South Asian	Sub	4	T=0.0	A=0.0, C=1.0
Allele Frequency Aggregator	Asian	Sub	4	T=0.0	A=0.0, C=1.0
Allele Frequency Aggregator	Latin American 1	Sub	0	T=0	A=0, C=0
Allele Frequency Aggregator	Latin American 2	Sub	0	T=0	A=0, C=0
1000Genomes_30x	Global	Study-wide	6404	T=0.0048	C=0.9952
1000Genomes_30x	African	Sub	1786	T=0.0174	C=0.9826
1000Genomes_30x	Europe	Sub	1266	T=0.0000	C=1.0000
1000Genomes_30x	South Asian	Sub	1202	T=0.0000	C=1.0000
1000Genomes_30x	East Asian	Sub	1170	T=0.0000	C=1.0000
1000Genomes_30x	American	Sub	980	T=0.000	C=1.000
1000Genomes	Global	Study-wide	5008	T=0.0052	C=0.9948
1000Genomes	African	Sub	1322	T=0.0197	C=0.9803
1000Genomes	East Asian	Sub	1008	T=0.0000	C=1.0000
1000Genomes	Europe	Sub	1006	T=0.0000	C=1.0000
1000Genomes	South Asian	Sub	978	T=0.000	C=1.000
1000Genomes	American	Sub	694	T=0.000	C=1.000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.0005	C=0.9995
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.0000	C=1.0000
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0000	C=1.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0000	C=1.0000
Northern Sweden	ACPOP	Study-wide	600	T=0.000	C=1.000
SGDP_PRJ	Global	Study-wide	558	T=0.002	C=0.998
HapMap	Global	Study-wide	328	T=0.003	C=0.997
HapMap	American	Sub	120	T=0.000	C=1.000
HapMap	African	Sub	118	T=0.008	C=0.992
HapMap	Asian	Sub	90	T=0.00	C=1.00
Qatari	Global	Study-wide	216	T=0.000	C=1.000
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.000	C=1.000
Siberian	Global	Study-wide	56	T=0.00	C=1.00
The Danish reference pan genome	Danish	Study-wide	40	T=0.00	C=1.00

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 11	NC_000011.10:g.36479927T>A
GRCh38.p14 chr 11	NC_000011.10:g.36479927T>C
GRCh37.p13 chr 11	NC_000011.9:g.36501477T>A
GRCh37.p13 chr 11	NC_000011.9:g.36501477T>C

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
GRCh38.p14 chr 11	NC_000011.10:g.36479927=	NC_000011.10:g.36479927T>A	NC_000011.10:g.36479927T>C
GRCh37.p13 chr 11	NC_000011.9:g.36501477=	NC_000011.9:g.36501477T>A	NC_000011.9:g.36501477T>C

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#.

83 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss423272	Jul 12, 2000 (79)
2	SC_JCM	ss751072	Aug 11, 2000 (85)
3	KWOK	ss970318	Oct 04, 2000 (86)
4	KWOK	ss2008702	Oct 18, 2000 (87)
5	TSC-CSHL	ss3034567	Jun 15, 2001 (96)
6	SC_JCM	ss6116635	Feb 20, 2003 (111)
7	WI_SSAHASNP	ss6558627	Feb 20, 2003 (111)
8	WI_SSAHASNP	ss12137618	Jul 11, 2003 (116)
9	SC_SNP	ss15795450	Feb 27, 2004 (120)
10	SSAHASNP	ss20843993	Apr 05, 2004 (121)
11	HGSV	ss78324670	Dec 07, 2007 (129)
12	HGSV	ss79803163	Dec 15, 2007 (130)
13	HGSV	ss83122263	Dec 15, 2007 (130)
14	HGSV	ss85302927	Dec 15, 2007 (130)
15	BCMHGSC_JDW	ss88539838	Mar 23, 2008 (129)
16	HUMANGENOME_JCVI	ss97378290	Feb 06, 2009 (130)
17	BGI	ss106736546	Feb 06, 2009 (130)
18	1000GENOMES	ss110333420	Jan 24, 2009 (130)
19	1000GENOMES	ss114473895	Jan 25, 2009 (130)
20	ILLUMINA-UK	ss119797035	Dec 01, 2009 (131)
21	ENSEMBL	ss132428528	Dec 01, 2009 (131)
22	ENSEMBL	ss137741363	Dec 01, 2009 (131)
23	GMI	ss156161941	Dec 01, 2009 (131)
24	COMPLETE_GENOMICS	ss168216150	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss169649710	Jul 04, 2010 (132)
26	COMPLETE_GENOMICS	ss170806306	Jul 04, 2010 (132)
27	BUSHMAN	ss202592477	Jul 04, 2010 (132)
28	BCM-HGSC-SUB	ss207706084	Jul 04, 2010 (132)
29	1000GENOMES	ss225194948	Jul 14, 2010 (132)
30	1000GENOMES	ss235521945	Jul 15, 2010 (132)
31	1000GENOMES	ss242162024	Jul 15, 2010 (132)
32	BL	ss255048414	May 09, 2011 (134)
33	GMI	ss280960712	May 04, 2012 (137)
34	GMI	ss286354895	Apr 25, 2013 (138)
35	PJP	ss291221082	May 09, 2011 (134)
36	TISHKOFF	ss562503916	Apr 25, 2013 (138)
37	SSMP	ss657995226	Apr 25, 2013 (138)
38	JMKIDD_LAB	ss1077649978	Aug 21, 2014 (142)
39	1000GENOMES	ss1340851107	Aug 21, 2014 (142)
40	DDI	ss1426601714	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1575648531	Apr 01, 2015 (144)
42	EVA_UK10K_ALSPAC	ss1626380496	Apr 01, 2015 (144)
43	EVA_UK10K_TWINSUK	ss1669374529	Apr 01, 2015 (144)
44	HAMMER_LAB	ss1806777784	Sep 08, 2015 (146)
45	WEILL_CORNELL_DGM	ss1931768307	Feb 12, 2016 (147)
46	GENOMED	ss1967342134	Jul 19, 2016 (147)
47	JJLAB	ss2026631763	Sep 14, 2016 (149)
48	USC_VALOUEV	ss2154921430	Dec 20, 2016 (150)
49	HUMAN_LONGEVITY	ss2181699897	Dec 20, 2016 (150)
50	SYSTEMSBIOZJU	ss2627790384	Nov 08, 2017 (151)
51	GRF	ss2699202124	Nov 08, 2017 (151)
52	GNOMAD	ss2898393823	Nov 08, 2017 (151)
53	SWEGEN	ss3007895971	Nov 08, 2017 (151)
54	BIOINF_KMB_FNS_UNIBA	ss3027115379	Nov 08, 2017 (151)
55	CSHL	ss3349543984	Nov 08, 2017 (151)
56	URBANLAB	ss3649582070	Oct 12, 2018 (152)
57	EVA_DECODE	ss3691578450	Jul 13, 2019 (153)
58	ACPOP	ss3738087971	Jul 13, 2019 (153)
59	EVA	ss3749169298	Jul 13, 2019 (153)
60	PACBIO	ss3786924720	Jul 13, 2019 (153)
61	PACBIO	ss3792070983	Jul 13, 2019 (153)
62	PACBIO	ss3796953153	Jul 13, 2019 (153)
63	KHV_HUMAN_GENOMES	ss3814518216	Jul 13, 2019 (153)
64	EVA	ss3832578092	Apr 26, 2020 (154)
65	EVA	ss3839840011	Apr 26, 2020 (154)
66	EVA	ss3845317751	Apr 26, 2020 (154)
67	SGDP_PRJ	ss3876031682	Apr 26, 2020 (154)
68	KRGDB	ss3924291106	Apr 26, 2020 (154)
69	KOGIC	ss3969563672	Apr 26, 2020 (154)
70	TOPMED	ss4881600415	Apr 26, 2021 (155)
71	TOMMO_GENOMICS	ss5201501188	Apr 26, 2021 (155)
72	1000G_HIGH_COVERAGE	ss5287039935	Oct 16, 2022 (156)
73	EVA	ss5398909359	Oct 16, 2022 (156)
74	HUGCELL_USP	ss5482277613	Oct 16, 2022 (156)
75	EVA	ss5510322895	Oct 16, 2022 (156)
76	1000G_HIGH_COVERAGE	ss5582498298	Oct 16, 2022 (156)
77	SANFORD_IMAGENETICS	ss5651006382	Oct 16, 2022 (156)
78	TOMMO_GENOMICS	ss5748487020	Oct 16, 2022 (156)
79	YY_MCH	ss5812290595	Oct 16, 2022 (156)
80	EVA	ss5836515028	Oct 16, 2022 (156)
81	EVA	ss5849940246	Oct 16, 2022 (156)
82	EVA	ss5919566298	Oct 16, 2022 (156)
83	EVA	ss5942322600	Oct 16, 2022 (156)
84	1000Genomes	NC_000011.9 - 36501477	Oct 12, 2018 (152)
85	1000Genomes_30x	NC_000011.10 - 36479927	Oct 16, 2022 (156)
86	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 36501477	Oct 12, 2018 (152)
87	The Danish reference pan genome	NC_000011.9 - 36501477	Apr 26, 2020 (154)
88	gnomAD - Genomes	NC_000011.10 - 36479927	Apr 26, 2021 (155)
89	HapMap	NC_000011.10 - 36479927	Apr 26, 2020 (154)
90	KOREAN population from KRGDB	NC_000011.9 - 36501477	Apr 26, 2020 (154)
91	Korean Genome Project	NC_000011.10 - 36479927	Apr 26, 2020 (154)
92	Northern Sweden	NC_000011.9 - 36501477	Jul 13, 2019 (153)
93	Qatari	NC_000011.9 - 36501477	Apr 26, 2020 (154)
94	SGDP_PRJ	NC_000011.9 - 36501477	Apr 26, 2020 (154)
95	Siberian	NC_000011.9 - 36501477	Apr 26, 2020 (154)
96	8.3KJPN	NC_000011.9 - 36501477	Apr 26, 2021 (155)
97	14KJPN	NC_000011.10 - 36479927	Oct 16, 2022 (156)
98	TopMed	NC_000011.10 - 36479927	Apr 26, 2021 (155)
99	UK 10K study - Twins	NC_000011.9 - 36501477	Oct 12, 2018 (152)
100	A Vietnamese Genetic Variation Database	NC_000011.9 - 36501477	Jul 13, 2019 (153)
101	ALFA	NC_000011.10 - 36479927	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)
rs579562	Sep 19, 2000 (85)
rs60459271	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
9497552872	NC_000011.10:36479926:T:A	NC_000011.10:36479926:T:A	(self)
ss78324670, ss79803163, ss83122263, ss85302927, ss88539838, ss110333420, ss114473895, ss119797035, ss168216150, ss169649710, ss170806306, ss202592477, ss207706084, ss255048414, ss280960712, ss286354895, ss291221082	NC_000011.8:36458052:T:C	NC_000011.10:36479926:T:C	(self)
53360815, 29645859, 2523753, 31468500, 11372836, 13810237, 28048662, 7437784, 59470495, 29645859, 6585255, ss225194948, ss235521945, ss242162024, ss562503916, ss657995226, ss1077649978, ss1340851107, ss1426601714, ss1575648531, ss1626380496, ss1669374529, ss1806777784, ss1931768307, ss1967342134, ss2026631763, ss2154921430, ss2627790384, ss2699202124, ss2898393823, ss3007895971, ss3349543984, ss3738087971, ss3749169298, ss3786924720, ss3792070983, ss3796953153, ss3832578092, ss3839840011, ss3876031682, ss3924291106, ss5201501188, ss5398909359, ss5510322895, ss5651006382, ss5836515028, ss5942322600	NC_000011.9:36501476:T:C	NC_000011.10:36479926:T:C	(self)
70024233, 376635665, 592414, 25941673, 82324124, 97146071, 9497552872, ss2181699897, ss3027115379, ss3649582070, ss3691578450, ss3814518216, ss3845317751, ss3969563672, ss4881600415, ss5287039935, ss5482277613, ss5582498298, ss5748487020, ss5812290595, ss5849940246, ss5919566298	NC_000011.10:36479926:T:C	NC_000011.10:36479926:T:C	(self)
ss12137618	NT_009237.15:27902580:T:C	NC_000011.10:36479926:T:C	(self)
ss15795450, ss20843993	NT_009237.16:35265416:T:C	NC_000011.10:36479926:T:C	(self)
ss423272, ss751072, ss970318, ss2008702, ss3034567, ss6116635, ss6558627, ss97378290, ss106736546, ss132428528, ss137741363, ss156161941	NT_009237.18:36441476:T:C	NC_000011.10:36479926:T:C	(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 rs331462

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

rs331462