Name: rs2319760
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.

rs2319760

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:37946944 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.096600 (25569/264690, TOPMED)
C=0.088489 (12403/140164, GnomAD)
C=0.16494 (4661/28258, 14KJPN) (+ 19 more)
C=0.08418 (1816/21574, ALFA)
C=0.16784 (2813/16760, 8.3KJPN)
C=0.1181 (756/6404, 1000G_30x)
C=0.1216 (609/5008, 1000G)
C=0.0710 (318/4480, Estonian)
C=0.0776 (299/3854, ALSPAC)
C=0.0734 (272/3708, TWINSUK)
C=0.1406 (412/2930, KOREAN)
C=0.1217 (230/1890, HapMap)
C=0.1507 (276/1832, Korea1K)
C=0.055 (55/998, GoNL)
C=0.187 (117/626, Chileans)
C=0.075 (45/600, NorthernSweden)
C=0.134 (29/216, Qatari)
C=0.085 (18/212, Vietnamese)
T=0.472 (67/142, SGDP_PRJ)
C=0.12 (5/40, GENOME_DK)
T=0.50 (11/22, Siberian)
C=0.50 (11/22, Siberian)

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	21574	T=0.91582	C=0.08418
European	Sub	14286	T=0.92615	C=0.07385
African	Sub	5578	T=0.9061	C=0.0939
African Others	Sub	198	T=0.838	C=0.162
African American	Sub	5380	T=0.9086	C=0.0914
Asian	Sub	112	T=0.884	C=0.116
East Asian	Sub	86	T=0.87	C=0.13
Other Asian	Sub	26	T=0.92	C=0.08
Latin American 1	Sub	146	T=0.911	C=0.089
Latin American 2	Sub	610	T=0.805	C=0.195
South Asian	Sub	98	T=0.81	C=0.19
Other	Sub	744	T=0.902	C=0.098

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=0.903400	C=0.096600
gnomAD - Genomes	Global	Study-wide	140164	T=0.911511	C=0.088489
gnomAD - Genomes	European	Sub	75910	T=0.92508	C=0.07492
gnomAD - Genomes	African	Sub	42014	T=0.90053	C=0.09947
gnomAD - Genomes	American	Sub	13640	T=0.86408	C=0.13592
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.9630	C=0.0370
gnomAD - Genomes	East Asian	Sub	3128	T=0.8804	C=0.1196
gnomAD - Genomes	Other	Sub	2150	T=0.9135	C=0.0865
14KJPN	JAPANESE	Study-wide	28258	T=0.83506	C=0.16494
Allele Frequency Aggregator	Total	Global	21574	T=0.91582	C=0.08418
Allele Frequency Aggregator	European	Sub	14286	T=0.92615	C=0.07385
Allele Frequency Aggregator	African	Sub	5578	T=0.9061	C=0.0939
Allele Frequency Aggregator	Other	Sub	744	T=0.902	C=0.098
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.805	C=0.195
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.911	C=0.089
Allele Frequency Aggregator	Asian	Sub	112	T=0.884	C=0.116
Allele Frequency Aggregator	South Asian	Sub	98	T=0.81	C=0.19
8.3KJPN	JAPANESE	Study-wide	16760	T=0.83216	C=0.16784
1000Genomes_30x	Global	Study-wide	6404	T=0.8819	C=0.1181
1000Genomes_30x	African	Sub	1786	T=0.9132	C=0.0868
1000Genomes_30x	Europe	Sub	1266	T=0.9147	C=0.0853
1000Genomes_30x	South Asian	Sub	1202	T=0.7845	C=0.2155
1000Genomes_30x	East Asian	Sub	1170	T=0.8829	C=0.1171
1000Genomes_30x	American	Sub	980	T=0.901	C=0.099
1000Genomes	Global	Study-wide	5008	T=0.8784	C=0.1216
1000Genomes	African	Sub	1322	T=0.9138	C=0.0862
1000Genomes	East Asian	Sub	1008	T=0.8800	C=0.1200
1000Genomes	Europe	Sub	1006	T=0.9195	C=0.0805
1000Genomes	South Asian	Sub	978	T=0.775	C=0.225
1000Genomes	American	Sub	694	T=0.895	C=0.105
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9290	C=0.0710
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9224	C=0.0776
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9266	C=0.0734
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.8594	C=0.1406
HapMap	Global	Study-wide	1890	T=0.8783	C=0.1217
HapMap	American	Sub	770	T=0.881	C=0.119
HapMap	African	Sub	692	T=0.870	C=0.130
HapMap	Asian	Sub	252	T=0.837	C=0.163
HapMap	Europe	Sub	176	T=0.960	C=0.040
Korean Genome Project	KOREAN	Study-wide	1832	T=0.8493	C=0.1507
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.945	C=0.055
Chileans	Chilean	Study-wide	626	T=0.813	C=0.187
Northern Sweden	ACPOP	Study-wide	600	T=0.925	C=0.075
Qatari	Global	Study-wide	216	T=0.866	C=0.134
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.915	C=0.085
SGDP_PRJ	Global	Study-wide	142	T=0.472	C=0.528
The Danish reference pan genome	Danish	Study-wide	40	T=0.88	C=0.12
Siberian	Global	Study-wide	22	T=0.50	C=0.50

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 8	NC_000008.11:g.37946944T>C
GRCh37.p13 chr 8	NC_000008.10:g.37804462T>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=	C
GRCh38.p14 chr 8	NC_000008.11:g.37946944=	NC_000008.11:g.37946944T>C
GRCh37.p13 chr 8	NC_000008.10:g.37804462=	NC_000008.10:g.37804462T>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#.

55 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss3269203	Sep 28, 2001 (100)
2	PERLEGEN	ss23646078	Sep 20, 2004 (123)
3	ABI	ss44853944	Mar 15, 2006 (126)
4	AFFY	ss76803111	Dec 08, 2007 (130)
5	KRIBB_YJKIM	ss104869448	Feb 05, 2009 (130)
6	BUSHMAN	ss199049209	Jul 04, 2010 (132)
7	GMI	ss279773096	May 04, 2012 (137)
8	1000GENOMES	ss334818964	May 09, 2011 (134)
9	TISHKOFF	ss560689408	Apr 25, 2013 (138)
10	SSMP	ss655123276	Apr 25, 2013 (138)
11	EVA-GONL	ss985411623	Aug 21, 2014 (142)
12	JMKIDD_LAB	ss1075444970	Aug 21, 2014 (142)
13	1000GENOMES	ss1329448788	Aug 21, 2014 (142)
14	EVA_GENOME_DK	ss1582647066	Apr 01, 2015 (144)
15	EVA_DECODE	ss1595008563	Apr 01, 2015 (144)
16	EVA_UK10K_ALSPAC	ss1620421984	Apr 01, 2015 (144)
17	EVA_UK10K_TWINSUK	ss1663416017	Apr 01, 2015 (144)
18	EVA_SVP	ss1713030903	Apr 01, 2015 (144)
19	HAMMER_LAB	ss1805493132	Sep 08, 2015 (146)
20	WEILL_CORNELL_DGM	ss1928700943	Feb 12, 2016 (147)
21	GENOMED	ss1970961389	Jul 19, 2016 (147)
22	JJLAB	ss2025053223	Sep 14, 2016 (149)
23	USC_VALOUEV	ss2153274083	Dec 20, 2016 (150)
24	HUMAN_LONGEVITY	ss2302409528	Dec 20, 2016 (150)
25	SYSTEMSBIOZJU	ss2627009153	Nov 08, 2017 (151)
26	GRF	ss2709039467	Nov 08, 2017 (151)
27	GNOMAD	ss2865596607	Nov 08, 2017 (151)
28	SWEGEN	ss3003013178	Nov 08, 2017 (151)
29	BIOINF_KMB_FNS_UNIBA	ss3026316169	Nov 08, 2017 (151)
30	CSHL	ss3348139112	Nov 08, 2017 (151)
31	EGCUT_WGS	ss3670706811	Jul 13, 2019 (153)
32	EVA_DECODE	ss3721821924	Jul 13, 2019 (153)
33	ACPOP	ss3735581447	Jul 13, 2019 (153)
34	EVA	ss3767881047	Jul 13, 2019 (153)
35	KHV_HUMAN_GENOMES	ss3811042347	Jul 13, 2019 (153)
36	EVA	ss3831120124	Apr 26, 2020 (154)
37	EVA	ss3839069476	Apr 26, 2020 (154)
38	EVA	ss3844528118	Apr 26, 2020 (154)
39	SGDP_PRJ	ss3869715871	Apr 26, 2020 (154)
40	KRGDB	ss3917165276	Apr 26, 2020 (154)
41	KOGIC	ss3963665445	Apr 26, 2020 (154)
42	TOPMED	ss4782652196	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5188245985	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5276795314	Oct 16, 2022 (156)
45	EVA	ss5380509891	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5473402386	Oct 16, 2022 (156)
47	EVA	ss5509318710	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5566956515	Oct 16, 2022 (156)
49	SANFORD_IMAGENETICS	ss5645186790	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5730034567	Oct 16, 2022 (156)
51	YY_MCH	ss5809625204	Oct 16, 2022 (156)
52	EVA	ss5830401232	Oct 16, 2022 (156)
53	EVA	ss5856340317	Oct 16, 2022 (156)
54	EVA	ss5888563527	Oct 16, 2022 (156)
55	EVA	ss5974382626	Oct 16, 2022 (156)
56	1000Genomes	NC_000008.10 - 37804462	Oct 12, 2018 (152)
57	1000Genomes_30x	NC_000008.11 - 37946944	Oct 16, 2022 (156)
58	The Avon Longitudinal Study of Parents and Children	NC_000008.10 - 37804462	Oct 12, 2018 (152)
59	Chileans	NC_000008.10 - 37804462	Apr 26, 2020 (154)
60	Genetic variation in the Estonian population	NC_000008.10 - 37804462	Oct 12, 2018 (152)
61	The Danish reference pan genome	NC_000008.10 - 37804462	Apr 26, 2020 (154)
62	gnomAD - Genomes	NC_000008.11 - 37946944	Apr 26, 2021 (155)
63	Genome of the Netherlands Release 5	NC_000008.10 - 37804462	Apr 26, 2020 (154)
64	HapMap	NC_000008.11 - 37946944	Apr 26, 2020 (154)
65	KOREAN population from KRGDB	NC_000008.10 - 37804462	Apr 26, 2020 (154)
66	Korean Genome Project	NC_000008.11 - 37946944	Apr 26, 2020 (154)
67	Northern Sweden	NC_000008.10 - 37804462	Jul 13, 2019 (153)
68	Qatari	NC_000008.10 - 37804462	Apr 26, 2020 (154)
69	SGDP_PRJ	NC_000008.10 - 37804462	Apr 26, 2020 (154)
70	Siberian	NC_000008.10 - 37804462	Apr 26, 2020 (154)
71	8.3KJPN	NC_000008.10 - 37804462	Apr 26, 2021 (155)
72	14KJPN	NC_000008.11 - 37946944	Oct 16, 2022 (156)
73	TopMed	NC_000008.11 - 37946944	Apr 26, 2021 (155)
74	UK 10K study - Twins	NC_000008.10 - 37804462	Oct 12, 2018 (152)
75	A Vietnamese Genetic Variation Database	NC_000008.10 - 37804462	Jul 13, 2019 (153)
76	ALFA	NC_000008.11 - 37946944	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)
rs56432644	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss199049209, ss279773096, ss1595008563, ss1713030903	NC_000008.9:37923618:T:C	NC_000008.11:37946943:T:C	(self)
41561083, 23112194, 433158, 16445059, 8812004, 10322714, 24342670, 8866312, 10742873, 21732851, 5790437, 46215292, 23112194, 5149433, ss334818964, ss560689408, ss655123276, ss985411623, ss1075444970, ss1329448788, ss1582647066, ss1620421984, ss1663416017, ss1805493132, ss1928700943, ss1970961389, ss2025053223, ss2153274083, ss2627009153, ss2709039467, ss2865596607, ss3003013178, ss3348139112, ss3670706811, ss3735581447, ss3767881047, ss3831120124, ss3839069476, ss3869715871, ss3917165276, ss5188245985, ss5380509891, ss5509318710, ss5645186790, ss5830401232, ss5974382626	NC_000008.10:37804461:T:C	NC_000008.11:37946943:T:C	(self)
54482450, 293044668, 3607914, 20043446, 63871671, 620029756, 4590804306, ss2302409528, ss3026316169, ss3721821924, ss3811042347, ss3844528118, ss3963665445, ss4782652196, ss5276795314, ss5473402386, ss5566956515, ss5730034567, ss5809625204, ss5856340317, ss5888563527	NC_000008.11:37946943:T:C	NC_000008.11:37946943:T:C	(self)
ss3269203, ss23646078, ss44853944, ss76803111, ss104869448	NT_167187.1:25662607:T:C	NC_000008.11:37946943: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 rs2319760

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

rs2319760