Name: rs10863316
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.

rs10863316

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:217272981 (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=0.484268 (128181/264690, TOPMED)
C=0.491170 (68751/139974, GnomAD)
C=0.47092 (33620/71392, ALFA) (+ 19 more)
C=0.25704 (7263/28256, 14KJPN)
C=0.25632 (4296/16760, 8.3KJPN)
C=0.4408 (2823/6404, 1000G_30x)
C=0.4329 (2168/5008, 1000G)
C=0.4607 (2064/4480, Estonian)
C=0.4720 (1819/3854, ALSPAC)
C=0.4784 (1774/3708, TWINSUK)
C=0.2358 (691/2930, KOREAN)
C=0.4434 (924/2084, HGDP_Stanford)
C=0.4191 (793/1892, HapMap)
C=0.2538 (465/1832, Korea1K)
C=0.474 (473/998, GoNL)
C=0.405 (243/600, NorthernSweden)
T=0.375 (144/384, SGDP_PRJ)
C=0.481 (104/216, Qatari)
C=0.121 (26/214, Vietnamese)
C=0.33 (26/80, Ancient Sardinia)
C=0.42 (17/40, GENOME_DK)
T=0.38 (13/34, 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	71392	T=0.52908	C=0.47092
European	Sub	58764	T=0.53506	C=0.46494
African	Sub	4526	T=0.4722	C=0.5278
African Others	Sub	170	T=0.465	C=0.535
African American	Sub	4356	T=0.4725	C=0.5275
Asian	Sub	190	T=0.784	C=0.216
East Asian	Sub	148	T=0.791	C=0.209
Other Asian	Sub	42	T=0.76	C=0.24
Latin American 1	Sub	254	T=0.547	C=0.453
Latin American 2	Sub	1232	T=0.4886	C=0.5114
South Asian	Sub	4956	T=0.5206	C=0.4794
Other	Sub	1470	T=0.4918	C=0.5082

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=0.515732	C=0.484268
gnomAD - Genomes	Global	Study-wide	139974	T=0.508830	C=0.491170
gnomAD - Genomes	European	Sub	75810	T=0.51849	C=0.48151
gnomAD - Genomes	African	Sub	41910	T=0.47113	C=0.52887
gnomAD - Genomes	American	Sub	13660	T=0.49656	C=0.50344
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.5379	C=0.4621
gnomAD - Genomes	East Asian	Sub	3124	T=0.7990	C=0.2010
gnomAD - Genomes	Other	Sub	2148	T=0.5144	C=0.4856
Allele Frequency Aggregator	Total	Global	71392	T=0.52908	C=0.47092
Allele Frequency Aggregator	European	Sub	58764	T=0.53506	C=0.46494
Allele Frequency Aggregator	South Asian	Sub	4956	T=0.5206	C=0.4794
Allele Frequency Aggregator	African	Sub	4526	T=0.4722	C=0.5278
Allele Frequency Aggregator	Other	Sub	1470	T=0.4918	C=0.5082
Allele Frequency Aggregator	Latin American 2	Sub	1232	T=0.4886	C=0.5114
Allele Frequency Aggregator	Latin American 1	Sub	254	T=0.547	C=0.453
Allele Frequency Aggregator	Asian	Sub	190	T=0.784	C=0.216
14KJPN	JAPANESE	Study-wide	28256	T=0.74296	C=0.25704
8.3KJPN	JAPANESE	Study-wide	16760	T=0.74368	C=0.25632
1000Genomes_30x	Global	Study-wide	6404	T=0.5592	C=0.4408
1000Genomes_30x	African	Sub	1786	T=0.4737	C=0.5263
1000Genomes_30x	Europe	Sub	1266	T=0.5498	C=0.4502
1000Genomes_30x	South Asian	Sub	1202	T=0.5100	C=0.4900
1000Genomes_30x	East Asian	Sub	1170	T=0.7838	C=0.2162
1000Genomes_30x	American	Sub	980	T=0.519	C=0.481
1000Genomes	Global	Study-wide	5008	T=0.5671	C=0.4329
1000Genomes	African	Sub	1322	T=0.4803	C=0.5197
1000Genomes	East Asian	Sub	1008	T=0.7827	C=0.2173
1000Genomes	Europe	Sub	1006	T=0.5557	C=0.4443
1000Genomes	South Asian	Sub	978	T=0.510	C=0.490
1000Genomes	American	Sub	694	T=0.516	C=0.484
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.5393	C=0.4607
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.5280	C=0.4720
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.5216	C=0.4784
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.7642	C=0.2358
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.5566	C=0.4434
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.696	C=0.304
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.548	C=0.452
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.537	C=0.463
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.575	C=0.425
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.471	C=0.529
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.444	C=0.556
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.33	C=0.67
HapMap	Global	Study-wide	1892	T=0.5809	C=0.4191
HapMap	American	Sub	770	T=0.586	C=0.414
HapMap	African	Sub	692	T=0.503	C=0.497
HapMap	Asian	Sub	254	T=0.772	C=0.228
HapMap	Europe	Sub	176	T=0.591	C=0.409
Korean Genome Project	KOREAN	Study-wide	1832	T=0.7462	C=0.2538
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.526	C=0.474
Northern Sweden	ACPOP	Study-wide	600	T=0.595	C=0.405
SGDP_PRJ	Global	Study-wide	384	T=0.375	C=0.625
Qatari	Global	Study-wide	216	T=0.519	C=0.481
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.879	C=0.121
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	80	T=0.68	C=0.33
The Danish reference pan genome	Danish	Study-wide	40	T=0.57	C=0.42
Siberian	Global	Study-wide	34	T=0.38	C=0.62

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 1	NC_000001.11:g.217272981T>C
GRCh37.p13 chr 1	NC_000001.10:g.217446323T>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 1	NC_000001.11:g.217272981=	NC_000001.11:g.217272981T>C
GRCh37.p13 chr 1	NC_000001.10:g.217446323=	NC_000001.10:g.217446323T>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#.

93 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss15720706	Feb 27, 2004 (120)
2	SC_SNP	ss18062638	Feb 27, 2004 (120)
3	SC_SNP	ss18137893	Feb 27, 2004 (120)
4	SSAHASNP	ss20448320	Apr 05, 2004 (121)
5	ABI	ss43852320	Mar 15, 2006 (126)
6	ILLUMINA	ss66905952	Dec 02, 2006 (127)
7	ILLUMINA	ss67031138	Dec 02, 2006 (127)
8	ILLUMINA	ss68092298	Dec 12, 2006 (127)
9	ILLUMINA	ss70503460	May 26, 2008 (130)
10	ILLUMINA	ss71029704	May 18, 2007 (127)
11	ILLUMINA	ss75470740	Dec 07, 2007 (129)
12	HGSV	ss83581451	Dec 16, 2007 (130)
13	KRIBB_YJKIM	ss85017944	Dec 16, 2007 (130)
14	HGSV	ss85665744	Dec 16, 2007 (130)
15	HUMANGENOME_JCVI	ss99287640	Feb 06, 2009 (130)
16	1000GENOMES	ss111780899	Jan 25, 2009 (130)
17	ENSEMBL	ss131747118	Dec 01, 2009 (131)
18	ENSEMBL	ss138154671	Dec 01, 2009 (131)
19	ILLUMINA	ss152852826	Dec 01, 2009 (131)
20	ILLUMINA	ss159148529	Dec 01, 2009 (131)
21	COMPLETE_GENOMICS	ss165162107	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss167509155	Jul 04, 2010 (132)
23	ILLUMINA	ss170664556	Jul 04, 2010 (132)
24	BUSHMAN	ss199614084	Jul 04, 2010 (132)
25	BCM-HGSC-SUB	ss205092419	Jul 04, 2010 (132)
26	1000GENOMES	ss218884092	Jul 14, 2010 (132)
27	1000GENOMES	ss230903514	Jul 14, 2010 (132)
28	1000GENOMES	ss238515504	Jul 15, 2010 (132)
29	BL	ss253827191	May 09, 2011 (134)
30	GMI	ss276218080	May 04, 2012 (137)
31	GMI	ss284229145	Apr 25, 2013 (138)
32	PJP	ss290734653	May 09, 2011 (134)
33	ILLUMINA	ss536645300	Sep 08, 2015 (146)
34	TISHKOFF	ss555141438	Apr 25, 2013 (138)
35	SSMP	ss648703261	Apr 25, 2013 (138)
36	ILLUMINA	ss832661154	Jul 12, 2019 (153)
37	EVA-GONL	ss976147998	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1068604138	Aug 21, 2014 (142)
39	1000GENOMES	ss1294664255	Aug 21, 2014 (142)
40	DDI	ss1426112477	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1574681905	Apr 01, 2015 (144)
42	EVA_DECODE	ss1585544605	Apr 01, 2015 (144)
43	EVA_UK10K_ALSPAC	ss1602148132	Apr 01, 2015 (144)
44	EVA_UK10K_TWINSUK	ss1645142165	Apr 01, 2015 (144)
45	EVA_SVP	ss1712405769	Apr 01, 2015 (144)
46	HAMMER_LAB	ss1795733185	Sep 08, 2015 (146)
47	WEILL_CORNELL_DGM	ss1919372035	Feb 12, 2016 (147)
48	GENOMED	ss1966973907	Jul 19, 2016 (147)
49	JJLAB	ss2020208769	Sep 14, 2016 (149)
50	USC_VALOUEV	ss2148239657	Dec 20, 2016 (150)
51	HUMAN_LONGEVITY	ss2170117077	Dec 20, 2016 (150)
52	SYSTEMSBIOZJU	ss2624613512	Nov 08, 2017 (151)
53	GRF	ss2698233622	Nov 08, 2017 (151)
54	GNOMAD	ss2766250007	Nov 08, 2017 (151)
55	SWEGEN	ss2988455837	Nov 08, 2017 (151)
56	BIOINF_KMB_FNS_UNIBA	ss3023864210	Nov 08, 2017 (151)
57	CSHL	ss3343913155	Nov 08, 2017 (151)
58	ILLUMINA	ss3626310044	Oct 11, 2018 (152)
59	ILLUMINA	ss3637814518	Oct 11, 2018 (152)
60	ILLUMINA	ss3638922622	Oct 11, 2018 (152)
61	ILLUMINA	ss3639773102	Oct 11, 2018 (152)
62	ILLUMINA	ss3642820860	Oct 11, 2018 (152)
63	ILLUMINA	ss3643826245	Oct 11, 2018 (152)
64	URBANLAB	ss3646887984	Oct 11, 2018 (152)
65	EGCUT_WGS	ss3656416514	Jul 12, 2019 (153)
66	EVA_DECODE	ss3688636515	Jul 12, 2019 (153)
67	ACPOP	ss3727865696	Jul 12, 2019 (153)
68	EVA	ss3747339396	Jul 12, 2019 (153)
69	PACBIO	ss3783687387	Jul 12, 2019 (153)
70	PACBIO	ss3789299389	Jul 12, 2019 (153)
71	PACBIO	ss3794171683	Jul 12, 2019 (153)
72	KHV_HUMAN_GENOMES	ss3800343800	Jul 12, 2019 (153)
73	EVA	ss3826645038	Apr 25, 2020 (154)
74	HGDP	ss3847363832	Apr 25, 2020 (154)
75	SGDP_PRJ	ss3850904287	Apr 25, 2020 (154)
76	KRGDB	ss3896219658	Apr 25, 2020 (154)
77	KOGIC	ss3946498271	Apr 25, 2020 (154)
78	EVA	ss3984852348	Apr 25, 2021 (155)
79	EVA	ss4016962555	Apr 25, 2021 (155)
80	TOPMED	ss4483687907	Apr 25, 2021 (155)
81	TOMMO_GENOMICS	ss5148445387	Apr 25, 2021 (155)
82	1000G_HIGH_COVERAGE	ss5245808248	Oct 12, 2022 (156)
83	EVA	ss5324814443	Oct 12, 2022 (156)
84	HUGCELL_USP	ss5446244954	Oct 12, 2022 (156)
85	EVA	ss5506186969	Oct 12, 2022 (156)
86	1000G_HIGH_COVERAGE	ss5519912737	Oct 12, 2022 (156)
87	SANFORD_IMAGENETICS	ss5627455491	Oct 12, 2022 (156)
88	TOMMO_GENOMICS	ss5676210462	Oct 12, 2022 (156)
89	YY_MCH	ss5801640239	Oct 12, 2022 (156)
90	EVA	ss5833265806	Oct 12, 2022 (156)
91	EVA	ss5849285742	Oct 12, 2022 (156)
92	EVA	ss5911989921	Oct 12, 2022 (156)
93	EVA	ss5939293484	Oct 12, 2022 (156)
94	1000Genomes	NC_000001.10 - 217446323	Oct 11, 2018 (152)
95	1000Genomes_30x	NC_000001.11 - 217272981	Oct 12, 2022 (156)
96	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 217446323	Oct 11, 2018 (152)
97	Genetic variation in the Estonian population	NC_000001.10 - 217446323	Oct 11, 2018 (152)
98	The Danish reference pan genome	NC_000001.10 - 217446323	Apr 25, 2020 (154)
99	gnomAD - Genomes	NC_000001.11 - 217272981	Apr 25, 2021 (155)
100	Genome of the Netherlands Release 5	NC_000001.10 - 217446323	Apr 25, 2020 (154)
101	HGDP-CEPH-db Supplement 1	NC_000001.9 - 215512946	Apr 25, 2020 (154)
102	HapMap	NC_000001.11 - 217272981	Apr 25, 2020 (154)
103	KOREAN population from KRGDB	NC_000001.10 - 217446323	Apr 25, 2020 (154)
104	Korean Genome Project	NC_000001.11 - 217272981	Apr 25, 2020 (154)
105	Northern Sweden	NC_000001.10 - 217446323	Jul 12, 2019 (153)
106	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 217446323	Apr 25, 2021 (155)
107	Qatari	NC_000001.10 - 217446323	Apr 25, 2020 (154)
108	SGDP_PRJ	NC_000001.10 - 217446323	Apr 25, 2020 (154)
109	Siberian	NC_000001.10 - 217446323	Apr 25, 2020 (154)
110	8.3KJPN	NC_000001.10 - 217446323	Apr 25, 2021 (155)
111	14KJPN	NC_000001.11 - 217272981	Oct 12, 2022 (156)
112	TopMed	NC_000001.11 - 217272981	Apr 25, 2021 (155)
113	UK 10K study - Twins	NC_000001.10 - 217446323	Oct 11, 2018 (152)
114	A Vietnamese Genetic Variation Database	NC_000001.10 - 217446323	Jul 12, 2019 (153)
115	ALFA	NC_000001.11 - 217272981	Apr 25, 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)
rs61182927	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss83581451, ss85665744, ss3638922622, ss3639773102, ss3643826245	NC_000001.8:213834717:T:C	NC_000001.11:217272980:T:C	(self)
41724, ss111780899, ss165162107, ss167509155, ss199614084, ss205092419, ss253827191, ss276218080, ss284229145, ss290734653, ss1585544605, ss1712405769, ss3642820860, ss3847363832	NC_000001.9:215512945:T:C	NC_000001.11:217272980:T:C	(self)
5519273, 3047985, 2154762, 1885944, 1331183, 3397052, 1150561, 78275, 1413965, 2921267, 756011, 6414694, 3047985, 659505, ss218884092, ss230903514, ss238515504, ss536645300, ss555141438, ss648703261, ss832661154, ss976147998, ss1068604138, ss1294664255, ss1426112477, ss1574681905, ss1602148132, ss1645142165, ss1795733185, ss1919372035, ss1966973907, ss2020208769, ss2148239657, ss2624613512, ss2698233622, ss2766250007, ss2988455837, ss3343913155, ss3626310044, ss3637814518, ss3656416514, ss3727865696, ss3747339396, ss3783687387, ss3789299389, ss3794171683, ss3826645038, ss3850904287, ss3896219658, ss3984852348, ss4016962555, ss5148445387, ss5324814443, ss5506186969, ss5627455491, ss5833265806, ss5939293484	NC_000001.10:217446322:T:C	NC_000001.11:217272980:T:C	(self)
7438672, 39671475, 269629, 2876272, 10047566, 47294242, 5579940888, ss2170117077, ss3023864210, ss3646887984, ss3688636515, ss3800343800, ss3946498271, ss4483687907, ss5245808248, ss5446244954, ss5519912737, ss5676210462, ss5801640239, ss5849285742, ss5911989921	NC_000001.11:217272980:T:C	NC_000001.11:217272980:T:C	(self)
ss15720706, ss18137893, ss20448320	NT_021877.16:10882228:T:C	NC_000001.11:217272980:T:C	(self)
ss18062638, ss43852320, ss66905952, ss67031138, ss68092298, ss70503460, ss71029704, ss75470740, ss85017944, ss99287640, ss131747118, ss138154671, ss152852826, ss159148529, ss170664556	NT_167186.1:10964101:T:C	NC_000001.11:217272980: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 rs10863316

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

rs10863316