Name: rs2937774
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.

rs2937774

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:74124992 (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=0.250992 (66435/264690, TOPMED)
T=0.33258 (9398/28258, 14KJPN)
T=0.33628 (5636/16760, 8.3KJPN) (+ 16 more)
T=0.3386 (2645/7812, ALFA)
T=0.2786 (1784/6404, 1000G_30x)
T=0.2819 (1412/5008, 1000G)
T=0.2701 (1210/4480, Estonian)
T=0.2727 (1051/3854, ALSPAC)
T=0.2673 (991/3708, TWINSUK)
T=0.3553 (1041/2930, KOREAN)
T=0.2807 (530/1888, HapMap)
T=0.3362 (616/1832, Korea1K)
T=0.254 (253/998, GoNL)
T=0.323 (194/600, NorthernSweden)
T=0.233 (110/472, SGDP_PRJ)
T=0.403 (87/216, Qatari)
T=0.430 (92/214, Vietnamese)
T=0.24 (12/50, Siberian)
T=0.28 (11/40, 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	7812	T=0.3386	A=0.6614, C=0.0000
European	Sub	7252	T=0.3246	A=0.6754, C=0.0000
African	Sub	198	T=0.495	A=0.505, C=0.000
African Others	Sub	8	T=0.8	A=0.2, C=0.0
African American	Sub	190	T=0.484	A=0.516, C=0.000
Asian	Sub	28	T=0.89	A=0.11, C=0.00
East Asian	Sub	20	T=0.95	A=0.05, C=0.00
Other Asian	Sub	8	T=0.8	A=0.2, C=0.0
Latin American 1	Sub	20	T=1.00	A=0.00, C=0.00
Latin American 2	Sub	36	T=1.00	A=0.00, C=0.00
South Asian	Sub	10	T=0.6	A=0.4, C=0.0
Other	Sub	268	T=0.396	A=0.604, C=0.000

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=0.250992	A=0.749008
14KJPN	JAPANESE	Study-wide	28258	T=0.33258	A=0.66742
8.3KJPN	JAPANESE	Study-wide	16760	T=0.33628	A=0.66372
Allele Frequency Aggregator	Total	Global	7812	T=0.3386	A=0.6614, C=0.0000
Allele Frequency Aggregator	European	Sub	7252	T=0.3246	A=0.6754, C=0.0000
Allele Frequency Aggregator	Other	Sub	268	T=0.396	A=0.604, C=0.000
Allele Frequency Aggregator	African	Sub	198	T=0.495	A=0.505, C=0.000
Allele Frequency Aggregator	Latin American 2	Sub	36	T=1.00	A=0.00, C=0.00
Allele Frequency Aggregator	Asian	Sub	28	T=0.89	A=0.11, C=0.00
Allele Frequency Aggregator	Latin American 1	Sub	20	T=1.00	A=0.00, C=0.00
Allele Frequency Aggregator	South Asian	Sub	10	T=0.6	A=0.4, C=0.0
1000Genomes_30x	Global	Study-wide	6404	T=0.2786	A=0.7214
1000Genomes_30x	African	Sub	1786	T=0.1607	A=0.8393
1000Genomes_30x	Europe	Sub	1266	T=0.2733	A=0.7267
1000Genomes_30x	South Asian	Sub	1202	T=0.2870	A=0.7130
1000Genomes_30x	East Asian	Sub	1170	T=0.4000	A=0.6000
1000Genomes_30x	American	Sub	980	T=0.345	A=0.655
1000Genomes	Global	Study-wide	5008	T=0.2819	A=0.7181
1000Genomes	African	Sub	1322	T=0.1664	A=0.8336
1000Genomes	East Asian	Sub	1008	T=0.4048	A=0.5952
1000Genomes	Europe	Sub	1006	T=0.2724	A=0.7276
1000Genomes	South Asian	Sub	978	T=0.284	A=0.716
1000Genomes	American	Sub	694	T=0.334	A=0.666
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.2701	A=0.7299
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.2727	A=0.7273
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.2673	A=0.7327
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.3553	A=0.6447, C=0.0000
HapMap	Global	Study-wide	1888	T=0.2807	A=0.7193
HapMap	American	Sub	768	T=0.302	A=0.698
HapMap	African	Sub	692	T=0.207	A=0.793
HapMap	Asian	Sub	252	T=0.365	A=0.635
HapMap	Europe	Sub	176	T=0.358	A=0.642
Korean Genome Project	KOREAN	Study-wide	1832	T=0.3362	A=0.6638
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.254	A=0.746
Northern Sweden	ACPOP	Study-wide	600	T=0.323	A=0.677
SGDP_PRJ	Global	Study-wide	472	T=0.233	A=0.767
Qatari	Global	Study-wide	216	T=0.403	A=0.597
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.430	A=0.570
Siberian	Global	Study-wide	50	T=0.24	A=0.76
The Danish reference pan genome	Danish	Study-wide	40	T=0.28	A=0.72

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 5	NC_000005.10:g.74124992T>A
GRCh38.p14 chr 5	NC_000005.10:g.74124992T>C
GRCh37.p13 chr 5	NC_000005.9:g.73420817T>A
GRCh37.p13 chr 5	NC_000005.9:g.73420817T>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 5	NC_000005.10:g.74124992=	NC_000005.10:g.74124992T>A	NC_000005.10:g.74124992T>C
GRCh37.p13 chr 5	NC_000005.9:g.73420817=	NC_000005.9:g.73420817T>A	NC_000005.9:g.73420817T>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#.

85 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss4142292	Nov 05, 2001 (101)
2	CSHL-HAPMAP	ss17088195	Feb 27, 2004 (120)
3	SSAHASNP	ss22309870	Apr 05, 2004 (121)
4	PERLEGEN	ss24186748	Sep 20, 2004 (123)
5	AFFY	ss66111744	Dec 02, 2006 (127)
6	AFFY	ss76092751	Dec 08, 2007 (129)
7	KRIBB_YJKIM	ss81912633	Dec 15, 2007 (130)
8	HGSV	ss83294479	Dec 15, 2007 (130)
9	BCMHGSC_JDW	ss93136663	Mar 24, 2008 (129)
10	HUMANGENOME_JCVI	ss98625112	Feb 05, 2009 (130)
11	BGI	ss104206015	Dec 01, 2009 (131)
12	1000GENOMES	ss109128156	Jan 23, 2009 (130)
13	1000GENOMES	ss112009419	Jan 25, 2009 (130)
14	ILLUMINA-UK	ss116665722	Feb 14, 2009 (130)
15	ENSEMBL	ss142553314	Dec 01, 2009 (131)
16	ENSEMBL	ss143209220	Dec 01, 2009 (131)
17	GMI	ss155588673	Dec 01, 2009 (131)
18	ILLUMINA	ss160600463	Dec 01, 2009 (131)
19	COMPLETE_GENOMICS	ss162359022	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss165224054	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss166686454	Jul 04, 2010 (132)
22	AFFY	ss172478087	Jul 04, 2010 (132)
23	BUSHMAN	ss200390441	Jul 04, 2010 (132)
24	BCM-HGSC-SUB	ss206733934	Jul 04, 2010 (132)
25	1000GENOMES	ss221742384	Jul 14, 2010 (132)
26	1000GENOMES	ss232991901	Jul 14, 2010 (132)
27	1000GENOMES	ss240153962	Jul 15, 2010 (132)
28	BL	ss253538659	May 09, 2011 (134)
29	GMI	ss278336542	May 04, 2012 (137)
30	GMI	ss285197434	Apr 25, 2013 (138)
31	PJP	ss293380324	May 09, 2011 (134)
32	ILLUMINA	ss481616346	Sep 08, 2015 (146)
33	TISHKOFF	ss558466672	Apr 25, 2013 (138)
34	SSMP	ss652336520	Apr 25, 2013 (138)
35	EVA-GONL	ss981691107	Aug 21, 2014 (142)
36	JMKIDD_LAB	ss1072722496	Aug 21, 2014 (142)
37	1000GENOMES	ss1315575395	Aug 21, 2014 (142)
38	DDI	ss1430380379	Apr 01, 2015 (144)
39	EVA_GENOME_DK	ss1581186331	Apr 01, 2015 (144)
40	EVA_DECODE	ss1591210474	Apr 01, 2015 (144)
41	EVA_UK10K_ALSPAC	ss1613141297	Apr 01, 2015 (144)
42	EVA_UK10K_TWINSUK	ss1656135330	Apr 01, 2015 (144)
43	EVA_SVP	ss1712772726	Apr 01, 2015 (144)
44	HAMMER_LAB	ss1803676790	Sep 08, 2015 (146)
45	WEILL_CORNELL_DGM	ss1924948359	Feb 12, 2016 (147)
46	GENOMED	ss1970115586	Jul 19, 2016 (147)
47	JJLAB	ss2023079360	Sep 14, 2016 (149)
48	USC_VALOUEV	ss2151234595	Dec 20, 2016 (150)
49	HUMAN_LONGEVITY	ss2274691348	Dec 20, 2016 (150)
50	SYSTEMSBIOZJU	ss2626036123	Nov 08, 2017 (151)
51	GRF	ss2706782338	Nov 08, 2017 (151)
52	GNOMAD	ss2826022076	Nov 08, 2017 (151)
53	SWEGEN	ss2997132425	Nov 08, 2017 (151)
54	BIOINF_KMB_FNS_UNIBA	ss3025323899	Nov 08, 2017 (151)
55	CSHL	ss3346442000	Nov 08, 2017 (151)
56	ILLUMINA	ss3636718581	Oct 12, 2018 (152)
57	URBANLAB	ss3648089747	Oct 12, 2018 (152)
58	EGCUT_WGS	ss3665009655	Jul 13, 2019 (153)
59	EVA_DECODE	ss3714915813	Jul 13, 2019 (153)
60	ACPOP	ss3732459431	Jul 13, 2019 (153)
61	EVA	ss3763573722	Jul 13, 2019 (153)
62	PACBIO	ss3785143709	Jul 13, 2019 (153)
63	PACBIO	ss3790544907	Jul 13, 2019 (153)
64	PACBIO	ss3795421477	Jul 13, 2019 (153)
65	KHV_HUMAN_GENOMES	ss3806741302	Jul 13, 2019 (153)
66	EVA	ss3829303375	Apr 26, 2020 (154)
67	EVA	ss3838125575	Apr 26, 2020 (154)
68	EVA	ss3843566376	Apr 26, 2020 (154)
69	SGDP_PRJ	ss3862115311	Apr 26, 2020 (154)
70	KRGDB	ss3908678760	Apr 26, 2020 (154)
71	KOGIC	ss3956904633	Apr 26, 2020 (154)
72	TOPMED	ss4664179599	Apr 26, 2021 (155)
73	TOMMO_GENOMICS	ss5172302341	Apr 26, 2021 (155)
74	1000G_HIGH_COVERAGE	ss5264398320	Oct 13, 2022 (156)
75	EVA	ss5358342976	Oct 13, 2022 (156)
76	HUGCELL_USP	ss5462529735	Oct 13, 2022 (156)
77	EVA	ss5508065908	Oct 13, 2022 (156)
78	1000G_HIGH_COVERAGE	ss5548271130	Oct 13, 2022 (156)
79	SANFORD_IMAGENETICS	ss5638048052	Oct 13, 2022 (156)
80	TOMMO_GENOMICS	ss5708858766	Oct 13, 2022 (156)
81	YY_MCH	ss5806423403	Oct 13, 2022 (156)
82	EVA	ss5835089807	Oct 13, 2022 (156)
83	EVA	ss5854860641	Oct 13, 2022 (156)
84	EVA	ss5894664623	Oct 13, 2022 (156)
85	EVA	ss5966477236	Oct 13, 2022 (156)
86	1000Genomes	NC_000005.9 - 73420817	Oct 12, 2018 (152)
87	1000Genomes_30x	NC_000005.10 - 74124992	Oct 13, 2022 (156)
88	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 73420817	Oct 12, 2018 (152)
89	Genetic variation in the Estonian population	NC_000005.9 - 73420817	Oct 12, 2018 (152)
90	The Danish reference pan genome	NC_000005.9 - 73420817	Apr 26, 2020 (154)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 192233552 (NC_000005.10:74124991:T:A 105340/140092) Row 192233553 (NC_000005.10:74124991:T:C 11/140134)	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 192233552 (NC_000005.10:74124991:T:A 105340/140092) Row 192233553 (NC_000005.10:74124991:T:C 11/140134)	-	Apr 26, 2021 (155)
93	Genome of the Netherlands Release 5	NC_000005.9 - 73420817	Apr 26, 2020 (154)
94	HapMap	NC_000005.10 - 74124992	Apr 26, 2020 (154)
95	KOREAN population from KRGDB	NC_000005.9 - 73420817	Apr 26, 2020 (154)
96	Korean Genome Project	NC_000005.10 - 74124992	Apr 26, 2020 (154)
97	Northern Sweden	NC_000005.9 - 73420817	Jul 13, 2019 (153)
98	Qatari	NC_000005.9 - 73420817	Apr 26, 2020 (154)
99	SGDP_PRJ	NC_000005.9 - 73420817	Apr 26, 2020 (154)
100	Siberian	NC_000005.9 - 73420817	Apr 26, 2020 (154)
101	8.3KJPN	NC_000005.9 - 73420817	Apr 26, 2021 (155)
102	14KJPN	NC_000005.10 - 74124992	Oct 13, 2022 (156)
103	TopMed	NC_000005.10 - 74124992	Apr 26, 2021 (155)
104	UK 10K study - Twins	NC_000005.9 - 73420817	Oct 12, 2018 (152)
105	A Vietnamese Genetic Variation Database	NC_000005.9 - 73420817	Jul 13, 2019 (153)
106	ALFA	NC_000005.10 - 74124992	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)
rs17734989	Oct 08, 2004 (123)
rs58489499	May 24, 2008 (130)
rs60949900	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss66111744, ss76092751, ss83294479, ss93136663, ss109128156, ss112009419, ss116665722, ss160600463, ss162359022, ss165224054, ss166686454, ss172478087, ss200390441, ss206733934, ss253538659, ss278336542, ss285197434, ss293380324, ss1591210474, ss1712772726	NC_000005.8:73456572:T:A	NC_000005.10:74124991:T:A	(self)
27192891, 15118209, 10747903, 7351270, 6720929, 15856154, 5744296, 6990289, 14132291, 3750949, 30271648, 15118209, 3355875, ss221742384, ss232991901, ss240153962, ss481616346, ss558466672, ss652336520, ss981691107, ss1072722496, ss1315575395, ss1430380379, ss1581186331, ss1613141297, ss1656135330, ss1803676790, ss1924948359, ss1970115586, ss2023079360, ss2151234595, ss2626036123, ss2706782338, ss2826022076, ss2997132425, ss3346442000, ss3636718581, ss3665009655, ss3732459431, ss3763573722, ss3785143709, ss3790544907, ss3795421477, ss3829303375, ss3838125575, ss3862115311, ss3908678760, ss5172302341, ss5358342976, ss5508065908, ss5638048052, ss5835089807, ss5966477236	NC_000005.9:73420816:T:A	NC_000005.10:74124991:T:A	(self)
35797065, 2889941, 13282634, 42695870, 501557156, 3074657782, ss2274691348, ss3025323899, ss3648089747, ss3714915813, ss3806741302, ss3843566376, ss3956904633, ss4664179599, ss5264398320, ss5462529735, ss5548271130, ss5708858766, ss5806423403, ss5854860641, ss5894664623	NC_000005.10:74124991:T:A	NC_000005.10:74124991:T:A	(self)
ss17088195, ss22309870	NT_006713.13:2812948:T:A	NC_000005.10:74124991:T:A	(self)
ss4142292, ss24186748, ss81912633, ss98625112, ss104206015, ss142553314, ss143209220, ss155588673	NT_006713.15:24015175:T:A	NC_000005.10:74124991:T:A	(self)
15856154, ss2826022076, ss3908678760	NC_000005.9:73420816:T:C	NC_000005.10:74124991:T:C	(self)
3074657782, ss2274691348	NC_000005.10:74124991:T:C	NC_000005.10:74124991: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 rs2937774

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2937774