Name: rs10789632
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.

rs10789632

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:107678441 (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>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.415977 (110105/264690, TOPMED)
C=0.411931 (57653/139958, GnomAD)
C=0.42059 (11885/28258, 14KJPN) (+ 17 more)
C=0.38228 (8800/23020, ALFA)
C=0.42278 (7085/16758, 8.3KJPN)
C=0.4335 (2776/6404, 1000G_30x)
C=0.4361 (2184/5008, 1000G)
C=0.3779 (1693/4480, Estonian)
C=0.3383 (1304/3854, ALSPAC)
C=0.3271 (1213/3708, TWINSUK)
C=0.4341 (1272/2930, KOREAN)
C=0.4577 (854/1866, HapMap)
C=0.4372 (801/1832, Korea1K)
C=0.316 (315/998, GoNL)
C=0.293 (176/600, NorthernSweden)
C=0.258 (115/446, SGDP_PRJ)
C=0.384 (83/216, Qatari)
C=0.439 (93/212, Vietnamese)
C=0.19 (9/48, Siberian)
C=0.25 (10/40, GENOME_DK)

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	23020	C=0.38228	A=0.00000, T=0.61772
European	Sub	15066	C=0.34482	A=0.00000, T=0.65518
African	Sub	3288	C=0.6131	A=0.0000, T=0.3869
African Others	Sub	116	C=0.672	A=0.000, T=0.328
African American	Sub	3172	C=0.6110	A=0.0000, T=0.3890
Asian	Sub	160	C=0.419	A=0.000, T=0.581
East Asian	Sub	102	C=0.422	A=0.000, T=0.578
Other Asian	Sub	58	C=0.41	A=0.00, T=0.59
Latin American 1	Sub	290	C=0.390	A=0.000, T=0.610
Latin American 2	Sub	2762	C=0.3121	A=0.0000, T=0.6879
South Asian	Sub	110	C=0.355	A=0.000, T=0.645
Other	Sub	1344	C=0.3780	A=0.0000, T=0.6220

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=0.415977	T=0.584023
gnomAD - Genomes	Global	Study-wide	139958	C=0.411931	T=0.588069
gnomAD - Genomes	European	Sub	75812	C=0.32570	T=0.67430
gnomAD - Genomes	African	Sub	41916	C=0.57995	T=0.42005
gnomAD - Genomes	American	Sub	13640	C=0.38240	T=0.61760
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.3602	T=0.6398
gnomAD - Genomes	East Asian	Sub	3122	C=0.4420	T=0.5580
gnomAD - Genomes	Other	Sub	2148	C=0.4004	T=0.5996
14KJPN	JAPANESE	Study-wide	28258	C=0.42059	T=0.57941
Allele Frequency Aggregator	Total	Global	23020	C=0.38228	A=0.00000, T=0.61772
Allele Frequency Aggregator	European	Sub	15066	C=0.34482	A=0.00000, T=0.65518
Allele Frequency Aggregator	African	Sub	3288	C=0.6131	A=0.0000, T=0.3869
Allele Frequency Aggregator	Latin American 2	Sub	2762	C=0.3121	A=0.0000, T=0.6879
Allele Frequency Aggregator	Other	Sub	1344	C=0.3780	A=0.0000, T=0.6220
Allele Frequency Aggregator	Latin American 1	Sub	290	C=0.390	A=0.000, T=0.610
Allele Frequency Aggregator	Asian	Sub	160	C=0.419	A=0.000, T=0.581
Allele Frequency Aggregator	South Asian	Sub	110	C=0.355	A=0.000, T=0.645
8.3KJPN	JAPANESE	Study-wide	16758	C=0.42278	T=0.57722
1000Genomes_30x	Global	Study-wide	6404	C=0.4335	T=0.5665
1000Genomes_30x	African	Sub	1786	C=0.6176	T=0.3824
1000Genomes_30x	Europe	Sub	1266	C=0.2938	T=0.7062
1000Genomes_30x	South Asian	Sub	1202	C=0.3835	T=0.6165
1000Genomes_30x	East Asian	Sub	1170	C=0.4402	T=0.5598
1000Genomes_30x	American	Sub	980	C=0.332	T=0.668
1000Genomes	Global	Study-wide	5008	C=0.4361	T=0.5639
1000Genomes	African	Sub	1322	C=0.6142	T=0.3858
1000Genomes	East Asian	Sub	1008	C=0.4474	T=0.5526
1000Genomes	Europe	Sub	1006	C=0.2962	T=0.7038
1000Genomes	South Asian	Sub	978	C=0.397	T=0.603
1000Genomes	American	Sub	694	C=0.339	T=0.661
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.3779	T=0.6221
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3383	T=0.6617
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3271	T=0.6729
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.4341	T=0.5659
HapMap	Global	Study-wide	1866	C=0.4577	T=0.5423
HapMap	American	Sub	758	C=0.376	T=0.624
HapMap	African	Sub	684	C=0.585	T=0.415
HapMap	Asian	Sub	250	C=0.468	T=0.532
HapMap	Europe	Sub	174	C=0.299	T=0.701
Korean Genome Project	KOREAN	Study-wide	1832	C=0.4372	T=0.5628
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.316	T=0.684
Northern Sweden	ACPOP	Study-wide	600	C=0.293	T=0.707
SGDP_PRJ	Global	Study-wide	446	C=0.258	T=0.742
Qatari	Global	Study-wide	216	C=0.384	T=0.616
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.439	T=0.561
Siberian	Global	Study-wide	48	C=0.19	T=0.81
The Danish reference pan genome	Danish	Study-wide	40	C=0.25	T=0.75

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 11	NC_000011.10:g.107678441C>A
GRCh38.p14 chr 11	NC_000011.10:g.107678441C>T
GRCh37.p13 chr 11	NC_000011.9:g.107549167C>A
GRCh37.p13 chr 11	NC_000011.9:g.107549167C>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=	A	T
GRCh38.p14 chr 11	NC_000011.10:g.107678441=	NC_000011.10:g.107678441C>A	NC_000011.10:g.107678441C>T
GRCh37.p13 chr 11	NC_000011.9:g.107549167=	NC_000011.9:g.107549167C>A	NC_000011.9:g.107549167C>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#.

80 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss16124783	Feb 27, 2004 (120)
2	CSHL-HAPMAP	ss16522781	Feb 27, 2004 (120)
3	SC_SNP	ss18464552	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss19199134	Feb 27, 2004 (120)
5	SSAHASNP	ss20736330	Apr 05, 2004 (121)
6	PERLEGEN	ss23617000	Sep 20, 2004 (123)
7	ABI	ss38671103	Mar 13, 2006 (126)
8	AFFY	ss76514667	Dec 07, 2007 (129)
9	HGSV	ss83786088	Dec 14, 2007 (130)
10	BCMHGSC_JDW	ss88777917	Mar 24, 2008 (129)
11	HUMANGENOME_JCVI	ss97509453	Feb 03, 2009 (130)
12	BGI	ss102998738	Dec 01, 2009 (131)
13	KRIBB_YJKIM	ss105013382	Feb 03, 2009 (130)
14	1000GENOMES	ss111041069	Jan 25, 2009 (130)
15	ENSEMBL	ss131949931	Dec 01, 2009 (131)
16	ENSEMBL	ss132813091	Dec 01, 2009 (131)
17	GMI	ss156765928	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss175271346	Jul 04, 2010 (132)
19	BUSHMAN	ss203182203	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss207835120	Jul 04, 2010 (132)
21	1000GENOMES	ss211193646	Jul 14, 2010 (132)
22	1000GENOMES	ss225449420	Jul 14, 2010 (132)
23	1000GENOMES	ss235710690	Jul 15, 2010 (132)
24	1000GENOMES	ss242310352	Jul 15, 2010 (132)
25	BL	ss255373026	May 09, 2011 (134)
26	GMI	ss281162769	May 04, 2012 (137)
27	GMI	ss286453471	Apr 25, 2013 (138)
28	PJP	ss291135158	May 09, 2011 (134)
29	TISHKOFF	ss562811060	Apr 25, 2013 (138)
30	SSMP	ss658333887	Apr 25, 2013 (138)
31	EVA-GONL	ss988937311	Aug 21, 2014 (142)
32	JMKIDD_LAB	ss1078027090	Aug 21, 2014 (142)
33	1000GENOMES	ss1342863758	Aug 21, 2014 (142)
34	DDI	ss1426754637	Apr 01, 2015 (144)
35	EVA_GENOME_DK	ss1575939529	Apr 01, 2015 (144)
36	EVA_DECODE	ss1598602247	Apr 01, 2015 (144)
37	EVA_UK10K_ALSPAC	ss1627407126	Apr 01, 2015 (144)
38	EVA_UK10K_TWINSUK	ss1670401159	Apr 01, 2015 (144)
39	EVA_SVP	ss1713283011	Apr 01, 2015 (144)
40	HAMMER_LAB	ss1806986098	Sep 08, 2015 (146)
41	WEILL_CORNELL_DGM	ss1932299240	Feb 12, 2016 (147)
42	GENOMED	ss1967453426	Jul 19, 2016 (147)
43	JJLAB	ss2026894663	Sep 14, 2016 (149)
44	USC_VALOUEV	ss2155206903	Dec 20, 2016 (150)
45	HUMAN_LONGEVITY	ss2185492356	Dec 20, 2016 (150)
46	SYSTEMSBIOZJU	ss2627921591	Nov 08, 2017 (151)
47	GRF	ss2699513988	Nov 08, 2017 (151)
48	GNOMAD	ss2904169200	Nov 08, 2017 (151)
49	SWEGEN	ss3008740598	Nov 08, 2017 (151)
50	BIOINF_KMB_FNS_UNIBA	ss3027247597	Nov 08, 2017 (151)
51	CSHL	ss3349784390	Nov 08, 2017 (151)
52	URBANLAB	ss3649700292	Oct 12, 2018 (152)
53	EGCUT_WGS	ss3676065068	Jul 13, 2019 (153)
54	EVA_DECODE	ss3692551321	Jul 13, 2019 (153)
55	ACPOP	ss3738520970	Jul 13, 2019 (153)
56	EVA	ss3749781358	Jul 13, 2019 (153)
57	PACBIO	ss3787061727	Jul 13, 2019 (153)
58	PACBIO	ss3792187251	Jul 13, 2019 (153)
59	PACBIO	ss3797069784	Jul 13, 2019 (153)
60	KHV_HUMAN_GENOMES	ss3815113962	Jul 13, 2019 (153)
61	EVA	ss3832828149	Apr 26, 2020 (154)
62	EVA	ss3839975988	Apr 26, 2020 (154)
63	EVA	ss3845457385	Apr 26, 2020 (154)
64	SGDP_PRJ	ss3877088036	Apr 26, 2020 (154)
65	KRGDB	ss3925534927	Apr 26, 2020 (154)
66	KOGIC	ss3970697776	Apr 26, 2020 (154)
67	TOPMED	ss4899075567	Apr 26, 2021 (155)
68	TOMMO_GENOMICS	ss5203776985	Apr 26, 2021 (155)
69	1000G_HIGH_COVERAGE	ss5288814095	Oct 16, 2022 (156)
70	EVA	ss5402081475	Oct 16, 2022 (156)
71	HUGCELL_USP	ss5483811227	Oct 16, 2022 (156)
72	EVA	ss5510513415	Oct 16, 2022 (156)
73	1000G_HIGH_COVERAGE	ss5585255226	Oct 16, 2022 (156)
74	SANFORD_IMAGENETICS	ss5652023659	Oct 16, 2022 (156)
75	TOMMO_GENOMICS	ss5752191211	Oct 16, 2022 (156)
76	YY_MCH	ss5812757305	Oct 16, 2022 (156)
77	EVA	ss5837195649	Oct 16, 2022 (156)
78	EVA	ss5850141686	Oct 16, 2022 (156)
79	EVA	ss5921553938	Oct 16, 2022 (156)
80	EVA	ss5943349596	Oct 16, 2022 (156)
81	1000Genomes	NC_000011.9 - 107549167	Oct 12, 2018 (152)
82	1000Genomes_30x	NC_000011.10 - 107678441	Oct 16, 2022 (156)
83	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 107549167	Oct 12, 2018 (152)
84	Genetic variation in the Estonian population	NC_000011.9 - 107549167	Oct 12, 2018 (152)
85	The Danish reference pan genome	NC_000011.9 - 107549167	Apr 26, 2020 (154)
86	gnomAD - Genomes	NC_000011.10 - 107678441	Apr 26, 2021 (155)
87	Genome of the Netherlands Release 5	NC_000011.9 - 107549167	Apr 26, 2020 (154)
88	HapMap	NC_000011.10 - 107678441	Apr 26, 2020 (154)
89	KOREAN population from KRGDB	NC_000011.9 - 107549167	Apr 26, 2020 (154)
90	Korean Genome Project	NC_000011.10 - 107678441	Apr 26, 2020 (154)
91	Northern Sweden	NC_000011.9 - 107549167	Jul 13, 2019 (153)
92	Qatari	NC_000011.9 - 107549167	Apr 26, 2020 (154)
93	SGDP_PRJ	NC_000011.9 - 107549167	Apr 26, 2020 (154)
94	Siberian	NC_000011.9 - 107549167	Apr 26, 2020 (154)
95	8.3KJPN	NC_000011.9 - 107549167	Apr 26, 2021 (155)
96	14KJPN	NC_000011.10 - 107678441	Oct 16, 2022 (156)
97	TopMed	NC_000011.10 - 107678441	Apr 26, 2021 (155)
98	UK 10K study - Twins	NC_000011.9 - 107549167	Oct 12, 2018 (152)
99	A Vietnamese Genetic Variation Database	NC_000011.9 - 107549167	Jul 13, 2019 (153)
100	ALFA	NC_000011.10 - 107678441	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)
rs56791310	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
11577634100	NC_000011.10:107678440:C:A	NC_000011.10:107678440:C:A	(self)
ss83786088, ss88777917, ss111041069, ss175271346, ss203182203, ss207835120, ss211193646, ss255373026, ss281162769, ss286453471, ss291135158, ss1598602247, ss1713283011	NC_000011.8:107054376:C:T	NC_000011.10:107678440:C:T	(self)
55442270, 30770894, 21803316, 2726665, 13734821, 32712321, 11805835, 14341170, 29105016, 7723257, 61746292, 30770894, 6831122, ss225449420, ss235710690, ss242310352, ss562811060, ss658333887, ss988937311, ss1078027090, ss1342863758, ss1426754637, ss1575939529, ss1627407126, ss1670401159, ss1806986098, ss1932299240, ss1967453426, ss2026894663, ss2155206903, ss2627921591, ss2699513988, ss2904169200, ss3008740598, ss3349784390, ss3676065068, ss3738520970, ss3749781358, ss3787061727, ss3792187251, ss3797069784, ss3832828149, ss3839975988, ss3877088036, ss3925534927, ss5203776985, ss5402081475, ss5510513415, ss5652023659, ss5837195649, ss5943349596	NC_000011.9:107549166:C:T	NC_000011.10:107678440:C:T	(self)
72781161, 391224905, 693824, 27075777, 86028315, 114621223, 11577634100, ss2185492356, ss3027247597, ss3649700292, ss3692551321, ss3815113962, ss3845457385, ss3970697776, ss4899075567, ss5288814095, ss5483811227, ss5585255226, ss5752191211, ss5812757305, ss5850141686, ss5921553938	NC_000011.10:107678440:C:T	NC_000011.10:107678440:C:T	(self)
ss16124783, ss16522781, ss18464552, ss19199134, ss20736330	NT_033899.6:11093018:C:T	NC_000011.10:107678440:C:T	(self)
ss23617000, ss38671103, ss76514667, ss97509453, ss102998738, ss105013382, ss131949931, ss132813091, ss156765928	NT_033899.8:11111582:C:T	NC_000011.10:107678440: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 rs10789632

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

rs10789632