Name: rs2922931
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.

rs2922931

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:96765519 (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=0.187453 (49617/264690, TOPMED)
G=0.168296 (23556/139968, GnomAD)
G=0.27928 (7892/28258, 14KJPN) (+ 17 more)
G=0.11064 (2090/18890, ALFA)
G=0.27617 (4628/16758, 8.3KJPN)
G=0.2567 (1644/6404, 1000G_30x)
G=0.2504 (1254/5008, 1000G)
G=0.0444 (199/4480, Estonian)
G=0.0446 (172/3854, ALSPAC)
G=0.0383 (142/3708, TWINSUK)
G=0.2522 (739/2930, KOREAN)
G=0.2789 (511/1832, Korea1K)
G=0.040 (40/998, GoNL)
G=0.048 (29/600, NorthernSweden)
G=0.168 (85/506, SGDP_PRJ)
G=0.231 (72/312, HapMap)
G=0.176 (38/216, Qatari)
G=0.196 (42/214, Vietnamese)
G=0.13 (7/52, Siberian)
G=0.07 (3/40, 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	18890	G=0.11064	A=0.88936
European	Sub	14286	G=0.04326	A=0.95674
African	Sub	2946	G=0.3781	A=0.6219
African Others	Sub	114	G=0.447	A=0.553
African American	Sub	2832	G=0.3754	A=0.6246
Asian	Sub	112	G=0.250	A=0.750
East Asian	Sub	86	G=0.21	A=0.79
Other Asian	Sub	26	G=0.38	A=0.62
Latin American 1	Sub	146	G=0.110	A=0.890
Latin American 2	Sub	610	G=0.274	A=0.726
South Asian	Sub	98	G=0.15	A=0.85
Other	Sub	692	G=0.191	A=0.809

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=0.187453	A=0.812547
gnomAD - Genomes	Global	Study-wide	139968	G=0.168296	A=0.831704
gnomAD - Genomes	European	Sub	75866	G=0.04596	A=0.95404
gnomAD - Genomes	African	Sub	41884	G=0.37169	A=0.62831
gnomAD - Genomes	American	Sub	13620	G=0.23297	A=0.76703
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.0735	A=0.9265
gnomAD - Genomes	East Asian	Sub	3126	G=0.2313	A=0.7687
gnomAD - Genomes	Other	Sub	2152	G=0.1678	A=0.8322
14KJPN	JAPANESE	Study-wide	28258	G=0.27928	A=0.72072
Allele Frequency Aggregator	Total	Global	18890	G=0.11064	A=0.88936
Allele Frequency Aggregator	European	Sub	14286	G=0.04326	A=0.95674
Allele Frequency Aggregator	African	Sub	2946	G=0.3781	A=0.6219
Allele Frequency Aggregator	Other	Sub	692	G=0.191	A=0.809
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.274	A=0.726
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.110	A=0.890
Allele Frequency Aggregator	Asian	Sub	112	G=0.250	A=0.750
Allele Frequency Aggregator	South Asian	Sub	98	G=0.15	A=0.85
8.3KJPN	JAPANESE	Study-wide	16758	G=0.27617	A=0.72383
1000Genomes_30x	Global	Study-wide	6404	G=0.2567	A=0.7433
1000Genomes_30x	African	Sub	1786	G=0.4401	A=0.5599
1000Genomes_30x	Europe	Sub	1266	G=0.0442	A=0.9558
1000Genomes_30x	South Asian	Sub	1202	G=0.2404	A=0.7596
1000Genomes_30x	East Asian	Sub	1170	G=0.2419	A=0.7581
1000Genomes_30x	American	Sub	980	G=0.235	A=0.765
1000Genomes	Global	Study-wide	5008	G=0.2504	A=0.7496
1000Genomes	African	Sub	1322	G=0.4410	A=0.5590
1000Genomes	East Asian	Sub	1008	G=0.2341	A=0.7659
1000Genomes	Europe	Sub	1006	G=0.0457	A=0.9543
1000Genomes	South Asian	Sub	978	G=0.234	A=0.766
1000Genomes	American	Sub	694	G=0.231	A=0.769
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.0444	A=0.9556
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.0446	A=0.9554
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.0383	A=0.9617
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.2522	A=0.7478, C=0.0000, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	G=0.2789	A=0.7211
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.040	A=0.960
Northern Sweden	ACPOP	Study-wide	600	G=0.048	A=0.952
SGDP_PRJ	Global	Study-wide	506	G=0.168	A=0.832
HapMap	Global	Study-wide	312	G=0.231	A=0.769
HapMap	African	Sub	116	G=0.422	A=0.578
HapMap	American	Sub	112	G=0.027	A=0.973
HapMap	Asian	Sub	84	G=0.24	A=0.76
Qatari	Global	Study-wide	216	G=0.176	A=0.824
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.196	A=0.804
Siberian	Global	Study-wide	52	G=0.13	A=0.87
The Danish reference pan genome	Danish	Study-wide	40	G=0.07	A=0.93

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 7	NC_000007.14:g.96765519G>A
GRCh38.p14 chr 7	NC_000007.14:g.96765519G>C
GRCh38.p14 chr 7	NC_000007.14:g.96765519G>T
GRCh37.p13 chr 7	NC_000007.13:g.96394831G>A
GRCh37.p13 chr 7	NC_000007.13:g.96394831G>C
GRCh37.p13 chr 7	NC_000007.13:g.96394831G>T

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	C	T
GRCh38.p14 chr 7	NC_000007.14:g.96765519=	NC_000007.14:g.96765519G>A	NC_000007.14:g.96765519G>C	NC_000007.14:g.96765519G>T
GRCh37.p13 chr 7	NC_000007.13:g.96394831=	NC_000007.13:g.96394831G>A	NC_000007.13:g.96394831G>C	NC_000007.13:g.96394831G>T

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#.

79 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss4122812	Nov 05, 2001 (101)
2	SC_JCM	ss5902017	Feb 20, 2003 (111)
3	WUGSC_SSAHASNP	ss14576148	Dec 05, 2003 (120)
4	CSHL-HAPMAP	ss19723195	Feb 27, 2004 (120)
5	CSHL-HAPMAP	ss20318594	Feb 27, 2004 (120)
6	SSAHASNP	ss22570063	Apr 05, 2004 (121)
7	SSAHASNP	ss22951746	Apr 05, 2004 (121)
8	ABI	ss43009342	Mar 15, 2006 (126)
9	HGSV	ss78427694	Dec 07, 2007 (129)
10	BCMHGSC_JDW	ss93731424	Mar 25, 2008 (129)
11	HUMANGENOME_JCVI	ss98171580	Feb 03, 2009 (130)
12	BGI	ss104452530	Dec 01, 2009 (131)
13	1000GENOMES	ss112378936	Jan 25, 2009 (130)
14	1000GENOMES	ss114133122	Jan 25, 2009 (130)
15	ILLUMINA-UK	ss116208076	Feb 14, 2009 (130)
16	ENSEMBL	ss139382540	Dec 01, 2009 (131)
17	ENSEMBL	ss142705004	Dec 01, 2009 (131)
18	GMI	ss155228075	Dec 01, 2009 (131)
19	COMPLETE_GENOMICS	ss162548346	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss164912521	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss166887036	Jul 04, 2010 (132)
22	BUSHMAN	ss197949185	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss208008186	Jul 04, 2010 (132)
24	1000GENOMES	ss223218782	Jul 14, 2010 (132)
25	1000GENOMES	ss234085773	Jul 15, 2010 (132)
26	1000GENOMES	ss241019593	Jul 15, 2010 (132)
27	BL	ss254531164	May 09, 2011 (134)
28	GMI	ss279448893	May 04, 2012 (137)
29	GMI	ss285680804	Apr 25, 2013 (138)
30	PJP	ss293929493	May 09, 2011 (134)
31	SSMP	ss654572834	Apr 25, 2013 (138)
32	EVA-GONL	ss984569392	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1074817136	Aug 21, 2014 (142)
34	1000GENOMES	ss1326256566	Aug 21, 2014 (142)
35	DDI	ss1431216342	Apr 01, 2015 (144)
36	EVA_GENOME_DK	ss1582317064	Apr 01, 2015 (144)
37	EVA_DECODE	ss1594147883	Apr 01, 2015 (144)
38	EVA_UK10K_ALSPAC	ss1618758235	Apr 01, 2015 (144)
39	EVA_UK10K_TWINSUK	ss1661752268	Apr 01, 2015 (144)
40	HAMMER_LAB	ss1805124390	Sep 08, 2015 (146)
41	WEILL_CORNELL_DGM	ss1927828745	Feb 12, 2016 (147)
42	GENOMED	ss1970767223	Jul 19, 2016 (147)
43	JJLAB	ss2024597522	Sep 14, 2016 (149)
44	USC_VALOUEV	ss2152818816	Dec 20, 2016 (150)
45	HUMAN_LONGEVITY	ss2296043569	Dec 20, 2016 (150)
46	SYSTEMSBIOZJU	ss2626790973	Nov 08, 2017 (151)
47	GRF	ss2708528128	Nov 08, 2017 (151)
48	GNOMAD	ss2856527058	Nov 08, 2017 (151)
49	SWEGEN	ss3001672545	Nov 08, 2017 (151)
50	BIOINF_KMB_FNS_UNIBA	ss3026091697	Nov 08, 2017 (151)
51	CSHL	ss3347742640	Nov 08, 2017 (151)
52	URBANLAB	ss3648706886	Oct 12, 2018 (152)
53	EGCUT_WGS	ss3669432457	Jul 13, 2019 (153)
54	EVA_DECODE	ss3720258641	Jul 13, 2019 (153)
55	ACPOP	ss3734884461	Jul 13, 2019 (153)
56	EVA	ss3766900631	Jul 13, 2019 (153)
57	PACBIO	ss3785899675	Jul 13, 2019 (153)
58	PACBIO	ss3791189053	Jul 13, 2019 (153)
59	PACBIO	ss3796069043	Jul 13, 2019 (153)
60	KHV_HUMAN_GENOMES	ss3810072817	Jul 13, 2019 (153)
61	EVA	ss3830712157	Apr 26, 2020 (154)
62	EVA	ss3838855000	Apr 26, 2020 (154)
63	EVA	ss3844310032	Apr 26, 2020 (154)
64	SGDP_PRJ	ss3867939148	Apr 26, 2020 (154)
65	KRGDB	ss3915218971	Apr 26, 2020 (154)
66	KOGIC	ss3962142651	Apr 26, 2020 (154)
67	TOPMED	ss4755862158	Apr 26, 2021 (155)
68	TOMMO_GENOMICS	ss5184563091	Apr 26, 2021 (155)
69	1000G_HIGH_COVERAGE	ss5273956644	Oct 13, 2022 (156)
70	EVA	ss5375368745	Oct 13, 2022 (156)
71	HUGCELL_USP	ss5470936681	Oct 13, 2022 (156)
72	1000G_HIGH_COVERAGE	ss5562702585	Oct 13, 2022 (156)
73	SANFORD_IMAGENETICS	ss5643545914	Oct 13, 2022 (156)
74	TOMMO_GENOMICS	ss5725241220	Oct 13, 2022 (156)
75	YY_MCH	ss5808907407	Oct 13, 2022 (156)
76	EVA	ss5823226910	Oct 13, 2022 (156)
77	EVA	ss5856013894	Oct 13, 2022 (156)
78	EVA	ss5860005170	Oct 13, 2022 (156)
79	EVA	ss5972729948	Oct 13, 2022 (156)
80	1000Genomes	NC_000007.13 - 96394831	Oct 12, 2018 (152)
81	1000Genomes_30x	NC_000007.14 - 96765519	Oct 13, 2022 (156)
82	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 96394831	Oct 12, 2018 (152)
83	Genetic variation in the Estonian population	NC_000007.13 - 96394831	Oct 12, 2018 (152)
84	The Danish reference pan genome	NC_000007.13 - 96394831	Apr 26, 2020 (154)
85	gnomAD - Genomes	NC_000007.14 - 96765519	Apr 26, 2021 (155)
86	Genome of the Netherlands Release 5	NC_000007.13 - 96394831	Apr 26, 2020 (154)
87	HapMap	NC_000007.14 - 96765519	Apr 26, 2020 (154)
88	KOREAN population from KRGDB	NC_000007.13 - 96394831	Apr 26, 2020 (154)
89	Korean Genome Project	NC_000007.14 - 96765519	Apr 26, 2020 (154)
90	Northern Sweden	NC_000007.13 - 96394831	Jul 13, 2019 (153)
91	Qatari	NC_000007.13 - 96394831	Apr 26, 2020 (154)
92	SGDP_PRJ	NC_000007.13 - 96394831	Apr 26, 2020 (154)
93	Siberian	NC_000007.13 - 96394831	Apr 26, 2020 (154)
94	8.3KJPN	NC_000007.13 - 96394831	Apr 26, 2021 (155)
95	14KJPN	NC_000007.14 - 96765519	Oct 13, 2022 (156)
96	TopMed	NC_000007.14 - 96765519	Apr 26, 2021 (155)
97	UK 10K study - Twins	NC_000007.13 - 96394831	Oct 12, 2018 (152)
98	A Vietnamese Genetic Variation Database	NC_000007.13 - 96394831	Jul 13, 2019 (153)
99	ALFA	NC_000007.14 - 96765519	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)
rs10370676	Feb 27, 2004 (120)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78427694	NC_000007.11:96039481:G:A	NC_000007.14:96765518:G:A	(self)
ss93731424, ss112378936, ss114133122, ss116208076, ss162548346, ss164912521, ss166887036, ss197949185, ss208008186, ss254531164, ss279448893, ss285680804, ss293929493, ss1594147883	NC_000007.12:96232766:G:A	NC_000007.14:96765518:G:A	(self)
38267433, 21295191, 15170705, 8482003, 9507164, 22396365, 8169326, 9870675, 19956128, 5335170, 42532398, 21295191, 4749698, ss223218782, ss234085773, ss241019593, ss654572834, ss984569392, ss1074817136, ss1326256566, ss1431216342, ss1582317064, ss1618758235, ss1661752268, ss1805124390, ss1927828745, ss1970767223, ss2024597522, ss2152818816, ss2626790973, ss2708528128, ss2856527058, ss3001672545, ss3347742640, ss3669432457, ss3734884461, ss3766900631, ss3785899675, ss3791189053, ss3796069043, ss3830712157, ss3838855000, ss3867939148, ss3915218971, ss5184563091, ss5375368745, ss5643545914, ss5823226910, ss5972729948	NC_000007.13:96394830:G:A	NC_000007.14:96765518:G:A	(self)
50228520, 270030146, 3452097, 18520652, 59078324, 593239717, 12659484155, ss2296043569, ss3026091697, ss3648706886, ss3720258641, ss3810072817, ss3844310032, ss3962142651, ss4755862158, ss5273956644, ss5470936681, ss5562702585, ss5725241220, ss5808907407, ss5856013894, ss5860005170	NC_000007.14:96765518:G:A	NC_000007.14:96765518:G:A	(self)
ss14576148, ss19723195, ss20318594, ss22570063, ss22951746	NT_007933.13:21628748:G:A	NC_000007.14:96765518:G:A	(self)
ss4122812, ss5902017, ss43009342, ss98171580, ss104452530, ss139382540, ss142705004, ss155228075	NT_007933.15:34427673:G:A	NC_000007.14:96765518:G:A	(self)
22396365, ss3915218971	NC_000007.13:96394830:G:C	NC_000007.14:96765518:G:C	(self)
22396365, ss3915218971	NC_000007.13:96394830:G:T	NC_000007.14:96765518:G:T	(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 rs2922931

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

rs2922931