Name: rs10765091
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.

rs10765091

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:131559711 (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=0.420091 (111194/264690, TOPMED)
A=0.413524 (57905/140028, GnomAD)
A=0.28282 (7992/28258, 14KJPN) (+ 16 more)
A=0.37847 (8857/23402, ALFA)
A=0.28234 (4732/16760, 8.3KJPN)
A=0.4377 (2803/6404, 1000G_30x)
A=0.4283 (2145/5008, 1000G)
A=0.4107 (1840/4480, Estonian)
A=0.3108 (1198/3854, ALSPAC)
A=0.2915 (1081/3708, TWINSUK)
A=0.3311 (970/2930, KOREAN)
A=0.3275 (600/1832, Korea1K)
A=0.324 (323/998, GoNL)
A=0.388 (233/600, NorthernSweden)
G=0.333 (122/366, SGDP_PRJ)
A=0.444 (96/216, Qatari)
A=0.271 (58/214, Vietnamese)
A=0.42 (17/40, GENOME_DK)
G=0.37 (11/30, 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	23402	G=0.62153	A=0.37847
European	Sub	18762	G=0.64897	A=0.35103
African	Sub	2946	G=0.4667	A=0.5333
African Others	Sub	114	G=0.430	A=0.570
African American	Sub	2832	G=0.4682	A=0.5318
Asian	Sub	112	G=0.679	A=0.321
East Asian	Sub	86	G=0.70	A=0.30
Other Asian	Sub	26	G=0.62	A=0.38
Latin American 1	Sub	146	G=0.630	A=0.370
Latin American 2	Sub	610	G=0.557	A=0.443
South Asian	Sub	98	G=0.47	A=0.53
Other	Sub	728	G=0.604	A=0.396

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	G=0.579909	A=0.420091
gnomAD - Genomes	Global	Study-wide	140028	G=0.586476	A=0.413524
gnomAD - Genomes	European	Sub	75864	G=0.65443	A=0.34557
gnomAD - Genomes	African	Sub	41910	G=0.47428	A=0.52572
gnomAD - Genomes	American	Sub	13660	G=0.53880	A=0.46120
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.5424	A=0.4576
gnomAD - Genomes	East Asian	Sub	3120	G=0.7000	A=0.3000
gnomAD - Genomes	Other	Sub	2152	G=0.5818	A=0.4182
14KJPN	JAPANESE	Study-wide	28258	G=0.71718	A=0.28282
Allele Frequency Aggregator	Total	Global	23402	G=0.62153	A=0.37847
Allele Frequency Aggregator	European	Sub	18762	G=0.64897	A=0.35103
Allele Frequency Aggregator	African	Sub	2946	G=0.4667	A=0.5333
Allele Frequency Aggregator	Other	Sub	728	G=0.604	A=0.396
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.557	A=0.443
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.630	A=0.370
Allele Frequency Aggregator	Asian	Sub	112	G=0.679	A=0.321
Allele Frequency Aggregator	South Asian	Sub	98	G=0.47	A=0.53
8.3KJPN	JAPANESE	Study-wide	16760	G=0.71766	A=0.28234
1000Genomes_30x	Global	Study-wide	6404	G=0.5623	A=0.4377
1000Genomes_30x	African	Sub	1786	G=0.4563	A=0.5437
1000Genomes_30x	Europe	Sub	1266	G=0.6453	A=0.3547
1000Genomes_30x	South Asian	Sub	1202	G=0.5008	A=0.4992
1000Genomes_30x	East Asian	Sub	1170	G=0.7256	A=0.2744
1000Genomes_30x	American	Sub	980	G=0.529	A=0.471
1000Genomes	Global	Study-wide	5008	G=0.5717	A=0.4283
1000Genomes	African	Sub	1322	G=0.4607	A=0.5393
1000Genomes	East Asian	Sub	1008	G=0.7252	A=0.2748
1000Genomes	Europe	Sub	1006	G=0.6481	A=0.3519
1000Genomes	South Asian	Sub	978	G=0.506	A=0.494
1000Genomes	American	Sub	694	G=0.542	A=0.458
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.5893	A=0.4107
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.6892	A=0.3108
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7085	A=0.2915
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.6689	A=0.3311
Korean Genome Project	KOREAN	Study-wide	1832	G=0.6725	A=0.3275
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.676	A=0.324
Northern Sweden	ACPOP	Study-wide	600	G=0.612	A=0.388
SGDP_PRJ	Global	Study-wide	366	G=0.333	A=0.667
Qatari	Global	Study-wide	216	G=0.556	A=0.444
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.729	A=0.271
The Danish reference pan genome	Danish	Study-wide	40	G=0.57	A=0.42
Siberian	Global	Study-wide	30	G=0.37	A=0.63

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.131559711G>A
GRCh37.p13 chr 10	NC_000010.10:g.133357974G>A
GRCh37.p13 chr 10 fix patch HG995_PATCH	NW_003315933.1:g.99656G>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 10	NC_000010.11:g.131559711=	NC_000010.11:g.131559711G>A
GRCh37.p13 chr 10	NC_000010.10:g.133357974=	NC_000010.10:g.133357974G>A
GRCh37.p13 chr 10 fix patch HG995_PATCH	NW_003315933.1:g.99656=	NW_003315933.1:g.99656G>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#.

84 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss15878250	Feb 27, 2004 (120)
2	CSHL-HAPMAP	ss16498486	Feb 27, 2004 (120)
3	SC_SNP	ss18441264	Feb 27, 2004 (120)
4	SC_SNP	ss18896615	Feb 27, 2004 (120)
5	SSAHASNP	ss20613129	Apr 05, 2004 (121)
6	ABI	ss39836615	Mar 15, 2006 (126)
7	HGSV	ss81789415	Dec 15, 2007 (130)
8	HGSV	ss84290743	Dec 15, 2007 (130)
9	BCMHGSC_JDW	ss88415968	Mar 23, 2008 (129)
10	HUMANGENOME_JCVI	ss97697973	Feb 06, 2009 (130)
11	1000GENOMES	ss109885171	Jan 24, 2009 (130)
12	ILLUMINA-UK	ss119333213	Feb 15, 2009 (130)
13	ENSEMBL	ss131860955	Dec 01, 2009 (131)
14	ENSEMBL	ss132203699	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss171417551	Jul 04, 2010 (132)
16	COMPLETE_GENOMICS	ss174828742	Jul 04, 2010 (132)
17	BCM-HGSC-SUB	ss207451045	Jul 04, 2010 (132)
18	1000GENOMES	ss211070613	Jul 14, 2010 (132)
19	1000GENOMES	ss225032274	Jul 14, 2010 (132)
20	1000GENOMES	ss235400778	Jul 15, 2010 (132)
21	1000GENOMES	ss242065090	Jul 15, 2010 (132)
22	BL	ss254742747	May 09, 2011 (134)
23	GMI	ss280838455	May 04, 2012 (137)
24	PJP	ss290968244	May 09, 2011 (134)
25	ILLUMINA	ss482265170	May 04, 2012 (137)
26	ILLUMINA	ss482524862	May 04, 2012 (137)
27	ILLUMINA	ss534570447	Sep 11, 2015 (146)
28	TISHKOFF	ss562314277	Apr 25, 2013 (138)
29	SSMP	ss657603772	Apr 25, 2013 (138)
30	ILLUMINA	ss781704041	Sep 11, 2015 (146)
31	ILLUMINA	ss835457719	Sep 11, 2015 (146)
32	EVA-GONL	ss988091184	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1077424086	Aug 21, 2014 (142)
34	1000GENOMES	ss1339690337	Aug 21, 2014 (142)
35	DDI	ss1426496350	Apr 09, 2015 (144)
36	EVA_GENOME_DK	ss1575456708	Apr 09, 2015 (144)
37	EVA_DECODE	ss1597771683	Apr 01, 2015 (144)
38	EVA_UK10K_ALSPAC	ss1625779039	Apr 09, 2015 (144)
39	EVA_UK10K_TWINSUK	ss1668773072	Apr 09, 2015 (144)
40	HAMMER_LAB	ss1806643510	Sep 11, 2015 (146)
41	WEILL_CORNELL_DGM	ss1931447860	Feb 17, 2016 (147)
42	GENOMED	ss1967265953	Sep 28, 2016 (149)
43	JJLAB	ss2026465954	Sep 28, 2016 (149)
44	USC_VALOUEV	ss2154746545	Oct 12, 2018 (152)
45	HUMAN_LONGEVITY	ss2179369738	Dec 20, 2016 (150)
46	SYSTEMSBIOZJU	ss2627702570	Oct 12, 2018 (152)
47	ILLUMINA	ss2632786130	Oct 12, 2018 (152)
48	GRF	ss2699011085	Oct 12, 2018 (152)
49	GNOMAD	ss2895112428	Oct 12, 2018 (152)
50	SWEGEN	ss3007403417	Oct 12, 2018 (152)
51	BIOINF_KMB_FNS_UNIBA	ss3027025261	Nov 08, 2017 (151)
52	CSHL	ss3349390465	Oct 12, 2018 (152)
53	ILLUMINA	ss3626573743	Oct 12, 2018 (152)
54	ILLUMINA	ss3630807075	Oct 12, 2018 (152)
55	ILLUMINA	ss3641712846	Oct 12, 2018 (152)
56	URBANLAB	ss3649504232	Oct 12, 2018 (152)
57	EGCUT_WGS	ss3674825256	Jul 13, 2019 (153)
58	EVA_DECODE	ss3690998238	Jul 13, 2019 (153)
59	ACPOP	ss3737819895	Jul 13, 2019 (153)
60	EVA	ss3748808215	Jul 13, 2019 (153)
61	PACBIO	ss3786832261	Jul 13, 2019 (153)
62	PACBIO	ss3791988730	Jul 13, 2019 (153)
63	PACBIO	ss3796870920	Jul 13, 2019 (153)
64	KHV_HUMAN_GENOMES	ss3814159561	Jul 13, 2019 (153)
65	EVA	ss3832418143	Apr 26, 2020 (154)
66	EVA	ss3839751449	Apr 26, 2020 (154)
67	EVA	ss3845227182	Apr 26, 2020 (154)
68	SGDP_PRJ	ss3875387081	Apr 26, 2020 (154)
69	KRGDB	ss3923583908	Apr 26, 2020 (154)
70	KOGIC	ss3968988968	Apr 26, 2020 (154)
71	GNOMAD	ss4228300957	Apr 26, 2021 (155)
72	TOPMED	ss4871761195	Apr 26, 2021 (155)
73	TOMMO_GENOMICS	ss5200173129	Apr 26, 2021 (155)
74	1000G_HIGH_COVERAGE	ss5286016152	Oct 16, 2022 (156)
75	EVA	ss5397058177	Oct 16, 2022 (156)
76	HUGCELL_USP	ss5481385891	Oct 16, 2022 (156)
77	1000G_HIGH_COVERAGE	ss5580967735	Oct 16, 2022 (156)
78	SANFORD_IMAGENETICS	ss5650412497	Oct 16, 2022 (156)
79	TOMMO_GENOMICS	ss5746756779	Oct 16, 2022 (156)
80	YY_MCH	ss5812026097	Oct 16, 2022 (156)
81	EVA	ss5825178637	Oct 16, 2022 (156)
82	EVA	ss5849813778	Oct 16, 2022 (156)
83	EVA	ss5881170913	Oct 16, 2022 (156)
84	EVA	ss5941727237	Oct 16, 2022 (156)
85	1000Genomes	NC_000010.10 - 133357974	Oct 12, 2018 (152)
86	1000Genomes_30x	NC_000010.11 - 131559711	Oct 16, 2022 (156)
87	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 133357974	Oct 12, 2018 (152)
88	Genetic variation in the Estonian population	NC_000010.10 - 133357974	Oct 12, 2018 (152)
89	The Danish reference pan genome	NC_000010.10 - 133357974	Apr 26, 2020 (154)
90	gnomAD - Genomes	NC_000010.11 - 131559711	Apr 26, 2021 (155)
91	Genome of the Netherlands Release 5	NC_000010.10 - 133357974	Apr 26, 2020 (154)
92	KOREAN population from KRGDB	NC_000010.10 - 133357974	Apr 26, 2020 (154)
93	Korean Genome Project	NC_000010.11 - 131559711	Apr 26, 2020 (154)
94	Northern Sweden	NC_000010.10 - 133357974	Jul 13, 2019 (153)
95	Qatari	NC_000010.10 - 133357974	Apr 26, 2020 (154)
96	SGDP_PRJ	NC_000010.10 - 133357974	Apr 26, 2020 (154)
97	Siberian	NC_000010.10 - 133357974	Apr 26, 2020 (154)
98	8.3KJPN	NC_000010.10 - 133357974	Apr 26, 2021 (155)
99	14KJPN	NC_000010.11 - 131559711	Oct 16, 2022 (156)
100	TopMed	NC_000010.11 - 131559711	Apr 26, 2021 (155)
101	UK 10K study - Twins	NC_000010.10 - 133357974	Oct 12, 2018 (152)
102	A Vietnamese Genetic Variation Database	NC_000010.10 - 133357974	Jul 13, 2019 (153)
103	ALFA	NC_000010.11 - 131559711	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)
rs60540963	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81789415, ss84290743	NC_000010.8:133247963:G:A	NC_000010.11:131559710:G:A	(self)
ss88415968, ss109885171, ss119333213, ss171417551, ss174828742, ss207451045, ss211070613, ss254742747, ss280838455, ss290968244, ss482524862, ss1597771683	NC_000010.9:133247963:G:A	NC_000010.11:131559710:G:A	(self)
52158729, 28985002, 20563504, 2395698, 12918942, 30761302, 11104760, 13489790, 27404061, 7262899, 58142436, 28985002, 6434031, ss225032274, ss235400778, ss242065090, ss482265170, ss534570447, ss562314277, ss657603772, ss781704041, ss835457719, ss988091184, ss1077424086, ss1339690337, ss1426496350, ss1575456708, ss1625779039, ss1668773072, ss1806643510, ss1931447860, ss1967265953, ss2026465954, ss2154746545, ss2627702570, ss2632786130, ss2699011085, ss2895112428, ss3007403417, ss3349390465, ss3626573743, ss3630807075, ss3641712846, ss3674825256, ss3737819895, ss3748808215, ss3786832261, ss3791988730, ss3796870920, ss3832418143, ss3839751449, ss3875387081, ss3923583908, ss5200173129, ss5397058177, ss5650412497, ss5825178637, ss5941727237	NC_000010.10:133357973:G:A	NC_000010.11:131559710:G:A	(self)
68493670, 368370274, 25366969, 80593883, 87306850, 10648758517, ss2179369738, ss3027025261, ss3649504232, ss3690998238, ss3814159561, ss3845227182, ss3968988968, ss4228300957, ss4871761195, ss5286016152, ss5481385891, ss5580967735, ss5746756779, ss5812026097, ss5849813778, ss5881170913	NC_000010.11:131559710:G:A	NC_000010.11:131559710:G:A	(self)
ss15878250, ss16498486, ss18441264, ss18896615, ss20613129	NT_008818.15:4591904:G:A	NC_000010.11:131559710:G:A	(self)
ss39836615, ss97697973, ss131860955, ss132203699	NT_008818.16:4591904:G:A	NC_000010.11:131559710: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 rs10765091

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

rs10765091