Name: rs7908317
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.

rs7908317

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:123327881 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.407469 (107853/264690, TOPMED)
T=0.409031 (57252/139970, GnomAD)
T=0.26548 (7502/28258, 14KJPN) (+ 17 more)
T=0.36077 (9269/25692, ALFA)
T=0.26551 (4450/16760, 8.3KJPN)
T=0.3913 (2506/6404, 1000G_30x)
T=0.3868 (1937/5008, 1000G)
T=0.2926 (1311/4480, Estonian)
T=0.3337 (1286/3854, ALSPAC)
T=0.3252 (1206/3708, TWINSUK)
T=0.2116 (620/2930, KOREAN)
T=0.4418 (835/1890, HapMap)
T=0.2123 (389/1832, Korea1K)
T=0.350 (349/998, GoNL)
T=0.211 (132/626, Chileans)
T=0.403 (242/600, NorthernSweden)
C=0.375 (102/272, SGDP_PRJ)
T=0.370 (80/216, Qatari)
T=0.33 (13/40, GENOME_DK)
C=0.42 (11/26, 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	25692	C=0.63923	T=0.36077
European	Sub	17394	C=0.67621	T=0.32379
African	Sub	3622	C=0.3865	T=0.6135
African Others	Sub	126	C=0.333	T=0.667
African American	Sub	3496	C=0.3884	T=0.6116
Asian	Sub	160	C=0.750	T=0.250
East Asian	Sub	102	C=0.716	T=0.284
Other Asian	Sub	58	C=0.81	T=0.19
Latin American 1	Sub	292	C=0.565	T=0.435
Latin American 2	Sub	2770	C=0.7242	T=0.2758
South Asian	Sub	110	C=0.727	T=0.273
Other	Sub	1344	C=0.6622	T=0.3378

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	C=0.592531	T=0.407469
gnomAD - Genomes	Global	Study-wide	139970	C=0.590969	T=0.409031
gnomAD - Genomes	European	Sub	75822	C=0.67138	T=0.32862
gnomAD - Genomes	African	Sub	41932	C=0.39116	T=0.60884
gnomAD - Genomes	American	Sub	13624	C=0.68416	T=0.31584
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.6905	T=0.3095
gnomAD - Genomes	East Asian	Sub	3126	C=0.7866	T=0.2134
gnomAD - Genomes	Other	Sub	2144	C=0.6236	T=0.3764
14KJPN	JAPANESE	Study-wide	28258	C=0.73452	T=0.26548
Allele Frequency Aggregator	Total	Global	25692	C=0.63923	T=0.36077
Allele Frequency Aggregator	European	Sub	17394	C=0.67621	T=0.32379
Allele Frequency Aggregator	African	Sub	3622	C=0.3865	T=0.6135
Allele Frequency Aggregator	Latin American 2	Sub	2770	C=0.7242	T=0.2758
Allele Frequency Aggregator	Other	Sub	1344	C=0.6622	T=0.3378
Allele Frequency Aggregator	Latin American 1	Sub	292	C=0.565	T=0.435
Allele Frequency Aggregator	Asian	Sub	160	C=0.750	T=0.250
Allele Frequency Aggregator	South Asian	Sub	110	C=0.727	T=0.273
8.3KJPN	JAPANESE	Study-wide	16760	C=0.73449	T=0.26551
1000Genomes_30x	Global	Study-wide	6404	C=0.6087	T=0.3913
1000Genomes_30x	African	Sub	1786	C=0.3477	T=0.6523
1000Genomes_30x	Europe	Sub	1266	C=0.6335	T=0.3665
1000Genomes_30x	South Asian	Sub	1202	C=0.7413	T=0.2587
1000Genomes_30x	East Asian	Sub	1170	C=0.7735	T=0.2265
1000Genomes_30x	American	Sub	980	C=0.693	T=0.307
1000Genomes	Global	Study-wide	5008	C=0.6132	T=0.3868
1000Genomes	African	Sub	1322	C=0.3404	T=0.6596
1000Genomes	East Asian	Sub	1008	C=0.7718	T=0.2282
1000Genomes	Europe	Sub	1006	C=0.6272	T=0.3728
1000Genomes	South Asian	Sub	978	C=0.747	T=0.253
1000Genomes	American	Sub	694	C=0.693	T=0.307
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.7074	T=0.2926
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6663	T=0.3337
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6748	T=0.3252
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7884	T=0.2116
HapMap	Global	Study-wide	1890	C=0.5582	T=0.4418
HapMap	American	Sub	770	C=0.635	T=0.365
HapMap	African	Sub	690	C=0.383	T=0.617
HapMap	Asian	Sub	254	C=0.732	T=0.268
HapMap	Europe	Sub	176	C=0.659	T=0.341
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7877	T=0.2123
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.650	T=0.350
Chileans	Chilean	Study-wide	626	C=0.789	T=0.211
Northern Sweden	ACPOP	Study-wide	600	C=0.597	T=0.403
SGDP_PRJ	Global	Study-wide	272	C=0.375	T=0.625
Qatari	Global	Study-wide	216	C=0.630	T=0.370
The Danish reference pan genome	Danish	Study-wide	40	C=0.68	T=0.33
Siberian	Global	Study-wide	26	C=0.42	T=0.58

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 10	NC_000010.11:g.123327881C>T
GRCh37.p13 chr 10	NC_000010.10:g.125087397C>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	C=	T
GRCh38.p14 chr 10	NC_000010.11:g.123327881=	NC_000010.11:g.123327881C>T
GRCh37.p13 chr 10	NC_000010.10:g.125087397=	NC_000010.10:g.125087397C>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#.

77 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12087641	Jul 11, 2003 (116)
2	SC_SNP	ss12987288	Dec 05, 2003 (119)
3	CSHL-HAPMAP	ss16486247	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss19172230	Feb 27, 2004 (120)
5	SSAHASNP	ss20733600	Apr 05, 2004 (121)
6	PERLEGEN	ss24576041	Sep 20, 2004 (123)
7	ABI	ss39781976	Mar 15, 2006 (126)
8	AFFY	ss66132713	Dec 01, 2006 (127)
9	AFFY	ss76140894	Dec 07, 2007 (129)
10	KRIBB_YJKIM	ss82513655	Dec 14, 2007 (130)
11	HGSV	ss84000610	Dec 15, 2007 (130)
12	HUMANGENOME_JCVI	ss97691696	Feb 05, 2009 (130)
13	BGI	ss102921136	Dec 01, 2009 (131)
14	1000GENOMES	ss109823773	Jan 24, 2009 (130)
15	1000GENOMES	ss113950041	Jan 25, 2009 (130)
16	ILLUMINA-UK	ss119319363	Feb 15, 2009 (130)
17	ENSEMBL	ss131850896	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss168787813	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss171272272	Jul 04, 2010 (132)
20	AFFY	ss172620965	Jul 04, 2010 (132)
21	BUSHMAN	ss202131653	Jul 04, 2010 (132)
22	1000GENOMES	ss224990878	Jul 14, 2010 (132)
23	1000GENOMES	ss235369400	Jul 15, 2010 (132)
24	1000GENOMES	ss242039309	Jul 15, 2010 (132)
25	BL	ss254692545	May 09, 2011 (134)
26	GMI	ss280808930	May 04, 2012 (137)
27	GMI	ss286280285	Apr 25, 2013 (138)
28	PJP	ss290951697	May 09, 2011 (134)
29	TISHKOFF	ss562268411	Apr 25, 2013 (138)
30	SSMP	ss657511751	Apr 25, 2013 (138)
31	EVA-GONL	ss988017922	Aug 21, 2014 (142)
32	JMKIDD_LAB	ss1077368610	Aug 21, 2014 (142)
33	1000GENOMES	ss1339429534	Aug 21, 2014 (142)
34	DDI	ss1426472487	Apr 01, 2015 (144)
35	EVA_GENOME_DK	ss1575411186	Apr 01, 2015 (144)
36	EVA_DECODE	ss1597697327	Apr 01, 2015 (144)
37	EVA_UK10K_ALSPAC	ss1625633342	Apr 01, 2015 (144)
38	EVA_UK10K_TWINSUK	ss1668627375	Apr 01, 2015 (144)
39	EVA_SVP	ss1713219004	Apr 01, 2015 (144)
40	HAMMER_LAB	ss1806610605	Sep 08, 2015 (146)
41	WEILL_CORNELL_DGM	ss1931375355	Feb 12, 2016 (147)
42	GENOMED	ss1967247029	Jul 19, 2016 (147)
43	JJLAB	ss2026425153	Sep 14, 2016 (149)
44	USC_VALOUEV	ss2154702911	Dec 20, 2016 (150)
45	HUMAN_LONGEVITY	ss2178830430	Dec 20, 2016 (150)
46	SYSTEMSBIOZJU	ss2627680053	Nov 08, 2017 (151)
47	GRF	ss2698964831	Nov 08, 2017 (151)
48	GNOMAD	ss2894411922	Nov 08, 2017 (151)
49	SWEGEN	ss3007295307	Nov 08, 2017 (151)
50	BIOINF_KMB_FNS_UNIBA	ss3027002115	Nov 08, 2017 (151)
51	CSHL	ss3349353840	Nov 08, 2017 (151)
52	URBANLAB	ss3649487812	Oct 12, 2018 (152)
53	EGCUT_WGS	ss3674714595	Jul 13, 2019 (153)
54	EVA_DECODE	ss3690862819	Jul 13, 2019 (153)
55	ACPOP	ss3737758768	Jul 13, 2019 (153)
56	EVA	ss3748718768	Jul 13, 2019 (153)
57	KHV_HUMAN_GENOMES	ss3814075355	Jul 13, 2019 (153)
58	EVA	ss3832379778	Apr 26, 2020 (154)
59	EVA	ss3839731433	Apr 26, 2020 (154)
60	EVA	ss3845206299	Apr 26, 2020 (154)
61	SGDP_PRJ	ss3875247218	Apr 26, 2020 (154)
62	KRGDB	ss3923429785	Apr 26, 2020 (154)
63	KOGIC	ss3968855556	Apr 26, 2020 (154)
64	TOPMED	ss4869616207	Apr 26, 2021 (155)
65	TOMMO_GENOMICS	ss5199884863	Apr 26, 2021 (155)
66	1000G_HIGH_COVERAGE	ss5285786564	Oct 16, 2022 (156)
67	EVA	ss5396627837	Oct 16, 2022 (156)
68	HUGCELL_USP	ss5481177308	Oct 16, 2022 (156)
69	EVA	ss5510200106	Oct 16, 2022 (156)
70	1000G_HIGH_COVERAGE	ss5580625365	Oct 16, 2022 (156)
71	SANFORD_IMAGENETICS	ss5650280440	Oct 16, 2022 (156)
72	TOMMO_GENOMICS	ss5746374520	Oct 16, 2022 (156)
73	YY_MCH	ss5811964436	Oct 16, 2022 (156)
74	EVA	ss5825084709	Oct 16, 2022 (156)
75	EVA	ss5849781740	Oct 16, 2022 (156)
76	EVA	ss5880900047	Oct 16, 2022 (156)
77	EVA	ss5941588345	Oct 16, 2022 (156)
78	1000Genomes	NC_000010.10 - 125087397	Oct 12, 2018 (152)
79	1000Genomes_30x	NC_000010.11 - 123327881	Oct 16, 2022 (156)
80	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 125087397	Oct 12, 2018 (152)
81	Chileans	NC_000010.10 - 125087397	Apr 26, 2020 (154)
82	Genetic variation in the Estonian population	NC_000010.10 - 125087397	Oct 12, 2018 (152)
83	The Danish reference pan genome	NC_000010.10 - 125087397	Apr 26, 2020 (154)
84	gnomAD - Genomes	NC_000010.11 - 123327881	Apr 26, 2021 (155)
85	Genome of the Netherlands Release 5	NC_000010.10 - 125087397	Apr 26, 2020 (154)
86	HapMap	NC_000010.11 - 123327881	Apr 26, 2020 (154)
87	KOREAN population from KRGDB	NC_000010.10 - 125087397	Apr 26, 2020 (154)
88	Korean Genome Project	NC_000010.11 - 123327881	Apr 26, 2020 (154)
89	Northern Sweden	NC_000010.10 - 125087397	Jul 13, 2019 (153)
90	Qatari	NC_000010.10 - 125087397	Apr 26, 2020 (154)
91	SGDP_PRJ	NC_000010.10 - 125087397	Apr 26, 2020 (154)
92	Siberian	NC_000010.10 - 125087397	Apr 26, 2020 (154)
93	8.3KJPN	NC_000010.10 - 125087397	Apr 26, 2021 (155)
94	14KJPN	NC_000010.11 - 123327881	Oct 16, 2022 (156)
95	TopMed	NC_000010.11 - 123327881	Apr 26, 2021 (155)
96	UK 10K study - Twins	NC_000010.10 - 125087397	Oct 12, 2018 (152)
97	ALFA	NC_000010.11 - 123327881	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)
rs17664764	Oct 08, 2004 (123)
rs56802265	Feb 26, 2009 (130)
rs58512157	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss84000610	NC_000010.8:125077386:C:T	NC_000010.11:123327880:C:T	(self)
ss109823773, ss113950041, ss119319363, ss168787813, ss171272272, ss202131653, ss254692545, ss280808930, ss286280285, ss290951697, ss1597697327, ss1713219004	NC_000010.9:125077386:C:T	NC_000010.11:123327880:C:T	(self)
51889739, 28826645, 64120, 20452843, 2364911, 12847270, 30607179, 11043633, 13417285, 27264198, 7219265, 57854170, 28826645, ss224990878, ss235369400, ss242039309, ss562268411, ss657511751, ss988017922, ss1077368610, ss1339429534, ss1426472487, ss1575411186, ss1625633342, ss1668627375, ss1806610605, ss1931375355, ss1967247029, ss2026425153, ss2154702911, ss2627680053, ss2698964831, ss2894411922, ss3007295307, ss3349353840, ss3674714595, ss3737758768, ss3748718768, ss3832379778, ss3839731433, ss3875247218, ss3923429785, ss5199884863, ss5396627837, ss5510200106, ss5650280440, ss5825084709, ss5941588345	NC_000010.10:125087396:C:T	NC_000010.11:123327880:C:T	(self)
68151300, 366576186, 513005, 25233557, 80211624, 85161862, 5283084367, ss2178830430, ss3027002115, ss3649487812, ss3690862819, ss3814075355, ss3845206299, ss3968855556, ss4869616207, ss5285786564, ss5481177308, ss5580625365, ss5746374520, ss5811964436, ss5849781740, ss5880900047	NC_000010.11:123327880:C:T	NC_000010.11:123327880:C:T	(self)
ss24576041, ss39781976, ss66132713, ss76140894, ss82513655, ss97691696, ss102921136, ss131850896, ss172620965	NT_030059.13:75891860:C:T	NC_000010.11:123327880:C:T	(self)
ss12087641, ss12987288	NT_037753.3:634576:C:T	NC_000010.11:123327880:C:T	(self)
ss16486247, ss19172230, ss20733600	NT_037753.4:634581:C:T	NC_000010.11:123327880:C: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 rs7908317

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

rs7908317