Name: rs10799362
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.

rs10799362

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:226610627 (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=0.345340 (91408/264690, TOPMED)
C=0.345757 (48377/139916, GnomAD)
C=0.32105 (22258/69328, ALFA) (+ 19 more)
C=0.31384 (8868/28256, 14KJPN)
C=0.31683 (5310/16760, 8.3KJPN)
C=0.3521 (2255/6404, 1000G_30x)
C=0.3486 (1746/5008, 1000G)
C=0.3261 (1461/4480, Estonian)
C=0.3124 (1204/3854, ALSPAC)
C=0.3118 (1156/3708, TWINSUK)
C=0.2638 (773/2930, KOREAN)
C=0.2860 (596/2084, HGDP_Stanford)
C=0.3624 (685/1890, HapMap)
C=0.2773 (508/1832, Korea1K)
C=0.294 (293/998, GoNL)
C=0.255 (153/600, NorthernSweden)
T=0.405 (119/294, SGDP_PRJ)
C=0.282 (61/216, Qatari)
C=0.332 (71/214, Vietnamese)
C=0.26 (16/62, Ancient Sardinia)
C=0.30 (12/40, GENOME_DK)
T=0.39 (14/36, 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	69328	T=0.67895	C=0.32105
European	Sub	56732	T=0.68792	C=0.31208
African	Sub	4526	T=0.5506	C=0.4494
African Others	Sub	170	T=0.524	C=0.476
African American	Sub	4356	T=0.5517	C=0.4483
Asian	Sub	190	T=0.647	C=0.353
East Asian	Sub	148	T=0.655	C=0.345
Other Asian	Sub	42	T=0.62	C=0.38
Latin American 1	Sub	254	T=0.587	C=0.413
Latin American 2	Sub	1232	T=0.7200	C=0.2800
South Asian	Sub	4956	T=0.6850	C=0.3150
Other	Sub	1438	T=0.6933	C=0.3067

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=0.654660	C=0.345340
gnomAD - Genomes	Global	Study-wide	139916	T=0.654243	C=0.345757
gnomAD - Genomes	European	Sub	75802	T=0.68841	C=0.31159
gnomAD - Genomes	African	Sub	41882	T=0.56363	C=0.43637
gnomAD - Genomes	American	Sub	13642	T=0.70114	C=0.29886
gnomAD - Genomes	Ashkenazi Jewish	Sub	3314	T=0.7770	C=0.2230
gnomAD - Genomes	East Asian	Sub	3128	T=0.7030	C=0.2970
gnomAD - Genomes	Other	Sub	2148	T=0.6569	C=0.3431
Allele Frequency Aggregator	Total	Global	69328	T=0.67895	C=0.32105
Allele Frequency Aggregator	European	Sub	56732	T=0.68792	C=0.31208
Allele Frequency Aggregator	South Asian	Sub	4956	T=0.6850	C=0.3150
Allele Frequency Aggregator	African	Sub	4526	T=0.5506	C=0.4494
Allele Frequency Aggregator	Other	Sub	1438	T=0.6933	C=0.3067
Allele Frequency Aggregator	Latin American 2	Sub	1232	T=0.7200	C=0.2800
Allele Frequency Aggregator	Latin American 1	Sub	254	T=0.587	C=0.413
Allele Frequency Aggregator	Asian	Sub	190	T=0.647	C=0.353
14KJPN	JAPANESE	Study-wide	28256	T=0.68616	C=0.31384
8.3KJPN	JAPANESE	Study-wide	16760	T=0.68317	C=0.31683
1000Genomes_30x	Global	Study-wide	6404	T=0.6479	C=0.3521
1000Genomes_30x	African	Sub	1786	T=0.5196	C=0.4804
1000Genomes_30x	Europe	Sub	1266	T=0.6935	C=0.3065
1000Genomes_30x	South Asian	Sub	1202	T=0.6839	C=0.3161
1000Genomes_30x	East Asian	Sub	1170	T=0.6966	C=0.3034
1000Genomes_30x	American	Sub	980	T=0.720	C=0.280
1000Genomes	Global	Study-wide	5008	T=0.6514	C=0.3486
1000Genomes	African	Sub	1322	T=0.5204	C=0.4796
1000Genomes	East Asian	Sub	1008	T=0.6964	C=0.3036
1000Genomes	Europe	Sub	1006	T=0.6958	C=0.3042
1000Genomes	South Asian	Sub	978	T=0.690	C=0.310
1000Genomes	American	Sub	694	T=0.716	C=0.284
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6739	C=0.3261
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6876	C=0.3124
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6882	C=0.3118
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.7362	C=0.2638
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.7140	C=0.2860
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.755	C=0.245
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.761	C=0.239
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.737	C=0.263
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.706	C=0.294
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.607	C=0.393
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.690	C=0.310
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.53	C=0.47
HapMap	Global	Study-wide	1890	T=0.6376	C=0.3624
HapMap	American	Sub	770	T=0.692	C=0.308
HapMap	African	Sub	690	T=0.546	C=0.454
HapMap	Asian	Sub	254	T=0.693	C=0.307
HapMap	Europe	Sub	176	T=0.676	C=0.324
Korean Genome Project	KOREAN	Study-wide	1832	T=0.7227	C=0.2773
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.706	C=0.294
Northern Sweden	ACPOP	Study-wide	600	T=0.745	C=0.255
SGDP_PRJ	Global	Study-wide	294	T=0.405	C=0.595
Qatari	Global	Study-wide	216	T=0.718	C=0.282
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.668	C=0.332
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	62	T=0.74	C=0.26
The Danish reference pan genome	Danish	Study-wide	40	T=0.70	C=0.30
Siberian	Global	Study-wide	36	T=0.39	C=0.61

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.226610627T>C
GRCh37.p13 chr 1	NC_000001.10:g.226798328T>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.226610627=	NC_000001.11:g.226610627T>C
GRCh37.p13 chr 1	NC_000001.10:g.226798328=	NC_000001.10:g.226798328T>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, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss17363386	Feb 27, 2004 (120)
2	SC_SNP	ss18108474	Feb 27, 2004 (120)
3	SC_SNP	ss18192243	Feb 27, 2004 (120)
4	PERLEGEN	ss23187679	Sep 20, 2004 (123)
5	ILLUMINA	ss70498295	May 26, 2008 (130)
6	ILLUMINA	ss71023858	May 17, 2007 (127)
7	ILLUMINA	ss75718706	Dec 06, 2007 (129)
8	HGSV	ss78478540	Dec 06, 2007 (129)
9	BCMHGSC_JDW	ss87994160	Mar 23, 2008 (129)
10	1000GENOMES	ss109000497	Jan 23, 2009 (130)
11	1000GENOMES	ss111871535	Jan 25, 2009 (130)
12	ILLUMINA-UK	ss119230261	Feb 15, 2009 (130)
13	ILLUMINA	ss152826028	Dec 01, 2009 (131)
14	GMI	ss156366925	Dec 01, 2009 (131)
15	ILLUMINA	ss159143207	Dec 01, 2009 (131)
16	COMPLETE_GENOMICS	ss165305929	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss167544667	Jul 04, 2010 (132)
18	ILLUMINA	ss170548602	Jul 04, 2010 (132)
19	BUSHMAN	ss199690889	Jul 04, 2010 (132)
20	1000GENOMES	ss218916940	Jul 14, 2010 (132)
21	1000GENOMES	ss230929566	Jul 14, 2010 (132)
22	1000GENOMES	ss238537260	Jul 15, 2010 (132)
23	GMI	ss276244825	May 04, 2012 (137)
24	GMI	ss284240981	Apr 25, 2013 (138)
25	PJP	ss290747619	May 09, 2011 (134)
26	ILLUMINA	ss410888932	Sep 17, 2011 (135)
27	ILLUMINA	ss536636091	Sep 08, 2015 (146)
28	TISHKOFF	ss555179951	Apr 25, 2013 (138)
29	SSMP	ss648751748	Apr 25, 2013 (138)
30	ILLUMINA	ss832655847	Aug 21, 2014 (142)
31	ILLUMINA	ss833246536	Aug 21, 2014 (142)
32	EVA-GONL	ss976215485	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1068655222	Aug 21, 2014 (142)
34	1000GENOMES	ss1294918149	Aug 21, 2014 (142)
35	DDI	ss1426132025	Apr 01, 2015 (144)
36	EVA_GENOME_DK	ss1574723084	Apr 01, 2015 (144)
37	EVA_DECODE	ss1585613342	Apr 01, 2015 (144)
38	EVA_UK10K_ALSPAC	ss1602282955	Apr 01, 2015 (144)
39	EVA_UK10K_TWINSUK	ss1645276988	Apr 01, 2015 (144)
40	EVA_SVP	ss1712410587	Apr 01, 2015 (144)
41	HAMMER_LAB	ss1795820365	Sep 08, 2015 (146)
42	WEILL_CORNELL_DGM	ss1919437344	Feb 12, 2016 (147)
43	JJLAB	ss2020243215	Sep 14, 2016 (149)
44	ILLUMINA	ss2094786837	Dec 20, 2016 (150)
45	ILLUMINA	ss2095002196	Dec 20, 2016 (150)
46	USC_VALOUEV	ss2148277692	Dec 20, 2016 (150)
47	HUMAN_LONGEVITY	ss2170642254	Dec 20, 2016 (150)
48	SYSTEMSBIOZJU	ss2624632996	Nov 08, 2017 (151)
49	GRF	ss2698275892	Nov 08, 2017 (151)
50	GNOMAD	ss2766982392	Nov 08, 2017 (151)
51	SWEGEN	ss2988561888	Nov 08, 2017 (151)
52	BIOINF_KMB_FNS_UNIBA	ss3023882085	Nov 08, 2017 (151)
53	CSHL	ss3343943703	Nov 08, 2017 (151)
54	ILLUMINA	ss3626323801	Oct 11, 2018 (152)
55	ILLUMINA	ss3637818024	Oct 11, 2018 (152)
56	ILLUMINA	ss3642824101	Oct 11, 2018 (152)
57	ILLUMINA	ss3651532211	Oct 11, 2018 (152)
58	EGCUT_WGS	ss3656521094	Jul 12, 2019 (153)
59	EVA_DECODE	ss3688761514	Jul 12, 2019 (153)
60	ACPOP	ss3727921372	Jul 12, 2019 (153)
61	EVA	ss3747419510	Jul 12, 2019 (153)
62	KHV_HUMAN_GENOMES	ss3800422161	Jul 12, 2019 (153)
63	EVA	ss3826678897	Apr 25, 2020 (154)
64	EVA	ss3836741586	Apr 25, 2020 (154)
65	EVA	ss3842153857	Apr 25, 2020 (154)
66	HGDP	ss3847365657	Apr 25, 2020 (154)
67	SGDP_PRJ	ss3851037737	Apr 25, 2020 (154)
68	KRGDB	ss3896375245	Apr 25, 2020 (154)
69	KOGIC	ss3946630218	Apr 25, 2020 (154)
70	EVA	ss3984856214	Apr 25, 2021 (155)
71	EVA	ss4016965878	Apr 25, 2021 (155)
72	TOPMED	ss4485950616	Apr 25, 2021 (155)
73	TOMMO_GENOMICS	ss5148741846	Apr 25, 2021 (155)
74	1000G_HIGH_COVERAGE	ss5246030905	Oct 12, 2022 (156)
75	EVA	ss5325219313	Oct 12, 2022 (156)
76	HUGCELL_USP	ss5446442689	Oct 12, 2022 (156)
77	EVA	ss5506212957	Oct 12, 2022 (156)
78	1000G_HIGH_COVERAGE	ss5520247720	Oct 12, 2022 (156)
79	SANFORD_IMAGENETICS	ss5627580040	Oct 12, 2022 (156)
80	TOMMO_GENOMICS	ss5676590443	Oct 12, 2022 (156)
81	YY_MCH	ss5801698961	Oct 12, 2022 (156)
82	EVA	ss5833357174	Oct 12, 2022 (156)
83	EVA	ss5849315590	Oct 12, 2022 (156)
84	EVA	ss5912242651	Oct 12, 2022 (156)
85	EVA	ss5939424443	Oct 12, 2022 (156)
86	1000Genomes	NC_000001.10 - 226798328	Oct 11, 2018 (152)
87	1000Genomes_30x	NC_000001.11 - 226610627	Oct 12, 2022 (156)
88	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 226798328	Oct 11, 2018 (152)
89	Genetic variation in the Estonian population	NC_000001.10 - 226798328	Oct 11, 2018 (152)
90	The Danish reference pan genome	NC_000001.10 - 226798328	Apr 25, 2020 (154)
91	gnomAD - Genomes	NC_000001.11 - 226610627	Apr 25, 2021 (155)
92	Genome of the Netherlands Release 5	NC_000001.10 - 226798328	Apr 25, 2020 (154)
93	HGDP-CEPH-db Supplement 1	NC_000001.9 - 224864951	Apr 25, 2020 (154)
94	HapMap	NC_000001.11 - 226610627	Apr 25, 2020 (154)
95	KOREAN population from KRGDB	NC_000001.10 - 226798328	Apr 25, 2020 (154)
96	Korean Genome Project	NC_000001.11 - 226610627	Apr 25, 2020 (154)
97	Northern Sweden	NC_000001.10 - 226798328	Jul 12, 2019 (153)
98	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 226798328	Apr 25, 2021 (155)
99	Qatari	NC_000001.10 - 226798328	Apr 25, 2020 (154)
100	SGDP_PRJ	NC_000001.10 - 226798328	Apr 25, 2020 (154)
101	Siberian	NC_000001.10 - 226798328	Apr 25, 2020 (154)
102	8.3KJPN	NC_000001.10 - 226798328	Apr 25, 2021 (155)
103	14KJPN	NC_000001.11 - 226610627	Oct 12, 2022 (156)
104	TopMed	NC_000001.11 - 226610627	Apr 25, 2021 (155)
105	UK 10K study - Twins	NC_000001.10 - 226798328	Oct 11, 2018 (152)
106	A Vietnamese Genetic Variation Database	NC_000001.10 - 226798328	Jul 12, 2019 (153)
107	ALFA	NC_000001.11 - 226610627	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)
rs386515341	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78478540	NC_000001.8:223105062:T:C	NC_000001.11:226610626:T:C	(self)
43549, ss87994160, ss109000497, ss111871535, ss119230261, ss165305929, ss167544667, ss199690889, ss276244825, ss284240981, ss290747619, ss410888932, ss1585613342, ss1712410587, ss3642824101, ss3847365657	NC_000001.9:224864950:T:C	NC_000001.11:226610626:T:C	(self)
5782437, 3196145, 2259342, 1913837, 1396781, 3552639, 1206237, 82141, 1479274, 3054717, 794046, 6711153, 3196145, 694205, ss218916940, ss230929566, ss238537260, ss536636091, ss555179951, ss648751748, ss832655847, ss833246536, ss976215485, ss1068655222, ss1294918149, ss1426132025, ss1574723084, ss1602282955, ss1645276988, ss1795820365, ss1919437344, ss2020243215, ss2094786837, ss2095002196, ss2148277692, ss2624632996, ss2698275892, ss2766982392, ss2988561888, ss3343943703, ss3626323801, ss3637818024, ss3651532211, ss3656521094, ss3727921372, ss3747419510, ss3826678897, ss3836741586, ss3851037737, ss3896375245, ss3984856214, ss4016965878, ss5148741846, ss5325219313, ss5506212957, ss5627580040, ss5833357174, ss5939424443	NC_000001.10:226798327:T:C	NC_000001.11:226610626:T:C	(self)
7773655, 41529210, 282549, 3008219, 10427547, 49556951, 11820698700, ss2170642254, ss3023882085, ss3688761514, ss3800422161, ss3842153857, ss3946630218, ss4485950616, ss5246030905, ss5446442689, ss5520247720, ss5676590443, ss5801698961, ss5849315590, ss5912242651	NC_000001.11:226610626:T:C	NC_000001.11:226610626:T:C	(self)
ss17363386, ss18108474, ss18192243	NT_004559.11:2974521:T:C	NC_000001.11:226610626:T:C	(self)
ss23187679, ss70498295, ss71023858, ss75718706, ss152826028, ss156366925, ss159143207, ss170548602	NT_167186.1:20316106:T:C	NC_000001.11:226610626: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 rs10799362

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

rs10799362