Name: rs10876281
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.

rs10876281

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:52372779 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.078783 (20853/264690, TOPMED)
A=0.063242 (8868/140224, GnomAD)
A=0.07803 (5121/65630, ALFA) (+ 16 more)
G=0.45499 (12857/28258, 14KJPN)
G=0.45453 (7618/16760, 8.3KJPN)
A=0.1463 (937/6404, 1000G_30x)
A=0.1516 (759/5008, 1000G)
A=0.0594 (266/4480, Estonian)
A=0.4805 (1408/2930, KOREAN)
A=0.4776 (875/1832, Korea1K)
A=0.1752 (280/1598, HapMap)
A=0.053 (53/998, GoNL)
A=0.165 (103/626, Chileans)
A=0.088 (53/600, NorthernSweden)
A=0.065 (14/216, Qatari)
A=0.435 (94/216, Vietnamese)
G=0.345 (67/194, SGDP_PRJ)
A=0.07 (3/40, GENOME_DK)
G=0.36 (8/22, 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	65630	G=0.92197	A=0.07803
European	Sub	46142	G=0.94079	A=0.05921
African	Sub	5838	G=0.9851	A=0.0149
African Others	Sub	202	G=0.995	A=0.005
African American	Sub	5636	G=0.9847	A=0.0153
Asian	Sub	502	G=0.534	A=0.466
East Asian	Sub	402	G=0.510	A=0.490
Other Asian	Sub	100	G=0.63	A=0.37
Latin American 1	Sub	742	G=0.927	A=0.073
Latin American 2	Sub	7152	G=0.7845	A=0.2155
South Asian	Sub	190	G=0.911	A=0.089
Other	Sub	5064	G=0.9100	A=0.0900

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.921217	A=0.078783
gnomAD - Genomes	Global	Study-wide	140224	G=0.936758	A=0.063242
gnomAD - Genomes	European	Sub	75936	G=0.94148	A=0.05852
gnomAD - Genomes	African	Sub	42032	G=0.98504	A=0.01496
gnomAD - Genomes	American	Sub	13654	G=0.85894	A=0.14106
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.9275	A=0.0725
gnomAD - Genomes	East Asian	Sub	3124	G=0.5384	A=0.4616
gnomAD - Genomes	Other	Sub	2154	G=0.9136	A=0.0864
Allele Frequency Aggregator	Total	Global	65630	G=0.92197	A=0.07803
Allele Frequency Aggregator	European	Sub	46142	G=0.94079	A=0.05921
Allele Frequency Aggregator	Latin American 2	Sub	7152	G=0.7845	A=0.2155
Allele Frequency Aggregator	African	Sub	5838	G=0.9851	A=0.0149
Allele Frequency Aggregator	Other	Sub	5064	G=0.9100	A=0.0900
Allele Frequency Aggregator	Latin American 1	Sub	742	G=0.927	A=0.073
Allele Frequency Aggregator	Asian	Sub	502	G=0.534	A=0.466
Allele Frequency Aggregator	South Asian	Sub	190	G=0.911	A=0.089
14KJPN	JAPANESE	Study-wide	28258	G=0.45499	A=0.54501
8.3KJPN	JAPANESE	Study-wide	16760	G=0.45453	A=0.54547
1000Genomes_30x	Global	Study-wide	6404	G=0.8537	A=0.1463
1000Genomes_30x	African	Sub	1786	G=0.9961	A=0.0039
1000Genomes_30x	Europe	Sub	1266	G=0.9439	A=0.0561
1000Genomes_30x	South Asian	Sub	1202	G=0.8694	A=0.1306
1000Genomes_30x	East Asian	Sub	1170	G=0.5462	A=0.4538
1000Genomes_30x	American	Sub	980	G=0.826	A=0.174
1000Genomes	Global	Study-wide	5008	G=0.8484	A=0.1516
1000Genomes	African	Sub	1322	G=0.9955	A=0.0045
1000Genomes	East Asian	Sub	1008	G=0.5417	A=0.4583
1000Genomes	Europe	Sub	1006	G=0.9443	A=0.0557
1000Genomes	South Asian	Sub	978	G=0.871	A=0.129
1000Genomes	American	Sub	694	G=0.843	A=0.157
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9406	A=0.0594
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.5195	A=0.4805
Korean Genome Project	KOREAN	Study-wide	1832	G=0.5224	A=0.4776
HapMap	Global	Study-wide	1598	G=0.8248	A=0.1752
HapMap	American	Sub	768	G=0.835	A=0.165
HapMap	African	Sub	402	G=0.978	A=0.022
HapMap	Asian	Sub	254	G=0.461	A=0.539
HapMap	Europe	Sub	174	G=0.960	A=0.040
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.947	A=0.053
Chileans	Chilean	Study-wide	626	G=0.835	A=0.165
Northern Sweden	ACPOP	Study-wide	600	G=0.912	A=0.088
Qatari	Global	Study-wide	216	G=0.935	A=0.065
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.565	A=0.435
SGDP_PRJ	Global	Study-wide	194	G=0.345	A=0.655
The Danish reference pan genome	Danish	Study-wide	40	G=0.93	A=0.07
Siberian	Global	Study-wide	22	G=0.36	A=0.64

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 12	NC_000012.12:g.52372779G>A
GRCh37.p13 chr 12	NC_000012.11:g.52766563G>A

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
GRCh38.p14 chr 12	NC_000012.12:g.52372779=	NC_000012.12:g.52372779G>A
GRCh37.p13 chr 12	NC_000012.11:g.52766563=	NC_000012.11:g.52766563G>A

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#.

67 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss16298599	Feb 27, 2004 (120)
2	SC_SNP	ss18124817	Feb 27, 2004 (120)
3	SC_SNP	ss18532003	Feb 27, 2004 (120)
4	PERLEGEN	ss23954233	Sep 20, 2004 (123)
5	AFFY	ss66087471	Dec 02, 2006 (127)
6	AFFY	ss76036971	Dec 07, 2007 (129)
7	KRIBB_YJKIM	ss82789692	Dec 15, 2007 (130)
8	HGSV	ss83021896	Dec 14, 2007 (130)
9	BGI	ss103048403	Dec 01, 2009 (131)
10	ILLUMINA	ss159932617	Dec 01, 2009 (131)
11	AFFY	ss170695764	Jul 04, 2010 (132)
12	1000GENOMES	ss235936569	Jul 15, 2010 (132)
13	1000GENOMES	ss242495662	Jul 15, 2010 (132)
14	GMI	ss281398173	May 04, 2012 (137)
15	PJP	ss291251343	May 09, 2011 (134)
16	ILLUMINA	ss410889752	Sep 17, 2011 (135)
17	ILLUMINA	ss479796421	Sep 08, 2015 (146)
18	ILLUMINA	ss483077794	May 04, 2012 (137)
19	ILLUMINA	ss483629713	May 04, 2012 (137)
20	ILLUMINA	ss535833577	Sep 08, 2015 (146)
21	SSMP	ss658724400	Apr 25, 2013 (138)
22	ILLUMINA	ss779512331	Sep 08, 2015 (146)
23	ILLUMINA	ss782258227	Sep 08, 2015 (146)
24	ILLUMINA	ss834982709	Sep 08, 2015 (146)
25	EVA-GONL	ss989538205	Aug 21, 2014 (142)
26	JMKIDD_LAB	ss1078464034	Aug 21, 2014 (142)
27	1000GENOMES	ss1345034604	Aug 21, 2014 (142)
28	EVA_GENOME_DK	ss1576286007	Apr 01, 2015 (144)
29	EVA_DECODE	ss1599209760	Apr 01, 2015 (144)
30	EVA_SVP	ss1713327942	Apr 01, 2015 (144)
31	WEILL_CORNELL_DGM	ss1932902671	Feb 12, 2016 (147)
32	GENOMED	ss1967590787	Jul 19, 2016 (147)
33	JJLAB	ss2027202374	Sep 14, 2016 (149)
34	USC_VALOUEV	ss2155540437	Dec 20, 2016 (150)
35	HUMAN_LONGEVITY	ss2189827438	Dec 20, 2016 (150)
36	SYSTEMSBIOZJU	ss2628081951	Nov 08, 2017 (151)
37	ILLUMINA	ss2632959771	Nov 08, 2017 (151)
38	GRF	ss2699883801	Nov 08, 2017 (151)
39	GNOMAD	ss2910556955	Nov 08, 2017 (151)
40	SWEGEN	ss3009696170	Nov 08, 2017 (151)
41	BIOINF_KMB_FNS_UNIBA	ss3027409677	Nov 08, 2017 (151)
42	CSHL	ss3350066123	Nov 08, 2017 (151)
43	ILLUMINA	ss3626878258	Oct 12, 2018 (152)
44	ILLUMINA	ss3630968910	Oct 12, 2018 (152)
45	ILLUMINA	ss3636189994	Oct 12, 2018 (152)
46	EGCUT_WGS	ss3676968382	Jul 13, 2019 (153)
47	EVA_DECODE	ss3693680228	Jul 13, 2019 (153)
48	ACPOP	ss3739025982	Jul 13, 2019 (153)
49	EVA	ss3750485746	Jul 13, 2019 (153)
50	KHV_HUMAN_GENOMES	ss3815814968	Jul 13, 2019 (153)
51	SGDP_PRJ	ss3878283566	Apr 27, 2020 (154)
52	KRGDB	ss3926916608	Apr 27, 2020 (154)
53	KOGIC	ss3971944522	Apr 27, 2020 (154)
54	TOPMED	ss4918458298	Apr 26, 2021 (155)
55	TOMMO_GENOMICS	ss5206343774	Apr 26, 2021 (155)
56	1000G_HIGH_COVERAGE	ss5290826292	Oct 13, 2022 (156)
57	EVA	ss5315621081	Oct 13, 2022 (156)
58	EVA	ss5405666644	Oct 13, 2022 (156)
59	HUGCELL_USP	ss5485577811	Oct 13, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5588321159	Oct 13, 2022 (156)
61	SANFORD_IMAGENETICS	ss5653162798	Oct 13, 2022 (156)
62	TOMMO_GENOMICS	ss5756142060	Oct 13, 2022 (156)
63	YY_MCH	ss5813302550	Oct 13, 2022 (156)
64	EVA	ss5837972632	Oct 13, 2022 (156)
65	EVA	ss5850383237	Oct 13, 2022 (156)
66	EVA	ss5904412370	Oct 13, 2022 (156)
67	EVA	ss5944526092	Oct 13, 2022 (156)
68	1000Genomes	NC_000012.11 - 52766563	Oct 12, 2018 (152)
69	1000Genomes_30x	NC_000012.12 - 52372779	Oct 13, 2022 (156)
70	Chileans	NC_000012.11 - 52766563	Apr 27, 2020 (154)
71	Genetic variation in the Estonian population	NC_000012.11 - 52766563	Oct 12, 2018 (152)
72	The Danish reference pan genome	NC_000012.11 - 52766563	Apr 27, 2020 (154)
73	gnomAD - Genomes	NC_000012.12 - 52372779	Apr 26, 2021 (155)
74	Genome of the Netherlands Release 5	NC_000012.11 - 52766563	Apr 27, 2020 (154)
75	HapMap	NC_000012.12 - 52372779	Apr 27, 2020 (154)
76	KOREAN population from KRGDB	NC_000012.11 - 52766563	Apr 27, 2020 (154)
77	Korean Genome Project	NC_000012.12 - 52372779	Apr 27, 2020 (154)
78	Northern Sweden	NC_000012.11 - 52766563	Jul 13, 2019 (153)
79	Qatari	NC_000012.11 - 52766563	Apr 27, 2020 (154)
80	SGDP_PRJ	NC_000012.11 - 52766563	Apr 27, 2020 (154)
81	Siberian	NC_000012.11 - 52766563	Apr 27, 2020 (154)
82	8.3KJPN	NC_000012.11 - 52766563	Apr 26, 2021 (155)
83	14KJPN	NC_000012.12 - 52372779	Oct 13, 2022 (156)
84	TopMed	NC_000012.12 - 52372779	Apr 26, 2021 (155)
85	A Vietnamese Genetic Variation Database	NC_000012.11 - 52766563	Jul 13, 2019 (153)
86	ALFA	NC_000012.12 - 52372779	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)
rs58090534	May 24, 2008 (130)
rs60805465	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss83021896	NC_000012.9:51052829:G:A	NC_000012.12:52372778:G:A	(self)
ss281398173, ss291251343, ss483077794, ss1599209760, ss1713327942	NC_000012.10:51052829:G:A	NC_000012.12:52372778:G:A	(self)
57784334, 99310, 22706630, 2965478, 14318035, 34094002, 12310847, 14944601, 30300546, 8056791, 64313081, 7122873, ss235936569, ss242495662, ss479796421, ss483629713, ss535833577, ss658724400, ss779512331, ss782258227, ss834982709, ss989538205, ss1078464034, ss1345034604, ss1576286007, ss1932902671, ss1967590787, ss2027202374, ss2155540437, ss2628081951, ss2632959771, ss2699883801, ss2910556955, ss3009696170, ss3350066123, ss3626878258, ss3630968910, ss3636189994, ss3676968382, ss3739025982, ss3750485746, ss3878283566, ss3926916608, ss5206343774, ss5315621081, ss5405666644, ss5653162798, ss5837972632, ss5944526092	NC_000012.11:52766562:G:A	NC_000012.12:52372778:G:A	(self)
75847094, 407478710, 816991, 28322523, 89979164, 134003955, 6045571229, ss2189827438, ss3027409677, ss3693680228, ss3815814968, ss3971944522, ss4918458298, ss5290826292, ss5485577811, ss5588321159, ss5756142060, ss5813302550, ss5850383237, ss5904412370	NC_000012.12:52372778:G:A	NC_000012.12:52372778:G:A	(self)
ss16298599, ss18124817, ss18532003	NT_029419.10:14909868:G:A	NC_000012.12:52372778:G:A	(self)
ss23954233, ss66087471, ss76036971, ss82789692, ss103048403, ss159932617, ss170695764, ss410889752	NT_029419.12:14909868:G:A	NC_000012.12:52372778:G:A	(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 rs10876281

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

rs10876281