Name: rs10765951
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.

rs10765951

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:12462575 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.177842 (47073/264690, TOPMED)
T=0.168147 (34483/205076, GENOGRAPHIC)
T=0.173323 (24285/140114, GnomAD) (+ 19 more)
T=0.19817 (5600/28258, 14KJPN)
T=0.18919 (4857/25672, ALFA)
T=0.20038 (3358/16758, 8.3KJPN)
T=0.2091 (1339/6404, 1000G_30x)
T=0.2065 (1034/5008, 1000G)
T=0.1944 (871/4480, Estonian)
T=0.1684 (649/3854, ALSPAC)
T=0.1548 (574/3708, TWINSUK)
T=0.1918 (562/2930, KOREAN)
T=0.1808 (342/1892, HapMap)
T=0.1878 (344/1832, Korea1K)
T=0.160 (160/998, GoNL)
T=0.371 (232/626, Chileans)
T=0.163 (98/600, NorthernSweden)
T=0.088 (19/216, Qatari)
T=0.286 (60/210, Vietnamese)
G=0.388 (76/196, SGDP_PRJ)
T=0.28 (11/40, GENOME_DK)
G=0.40 (8/20, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PARVA : Intron Variant
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	25672	G=0.81081	T=0.18919
European	Sub	17398	G=0.83228	T=0.16772
African	Sub	3624	G=0.8689	T=0.1311
African Others	Sub	126	G=0.873	T=0.127
African American	Sub	3498	G=0.8688	T=0.1312
Asian	Sub	160	G=0.688	T=0.312
East Asian	Sub	102	G=0.725	T=0.275
Other Asian	Sub	58	G=0.62	T=0.38
Latin American 1	Sub	290	G=0.841	T=0.159
Latin American 2	Sub	2744	G=0.6297	T=0.3703
South Asian	Sub	110	G=0.791	T=0.209
Other	Sub	1346	G=0.7556	T=0.2444

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=0.822158	T=0.177842
Genographic Project	Global	Study-wide	205076	G=0.831853	T=0.168147
gnomAD - Genomes	Global	Study-wide	140114	G=0.826677	T=0.173323
gnomAD - Genomes	European	Sub	75892	G=0.83346	T=0.16654
gnomAD - Genomes	African	Sub	41990	G=0.86194	T=0.13806
gnomAD - Genomes	American	Sub	13634	G=0.69063	T=0.30937
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.8489	T=0.1511
gnomAD - Genomes	East Asian	Sub	3126	G=0.7473	T=0.2527
gnomAD - Genomes	Other	Sub	2150	G=0.8423	T=0.1577
14KJPN	JAPANESE	Study-wide	28258	G=0.80183	T=0.19817
Allele Frequency Aggregator	Total	Global	25672	G=0.81081	T=0.18919
Allele Frequency Aggregator	European	Sub	17398	G=0.83228	T=0.16772
Allele Frequency Aggregator	African	Sub	3624	G=0.8689	T=0.1311
Allele Frequency Aggregator	Latin American 2	Sub	2744	G=0.6297	T=0.3703
Allele Frequency Aggregator	Other	Sub	1346	G=0.7556	T=0.2444
Allele Frequency Aggregator	Latin American 1	Sub	290	G=0.841	T=0.159
Allele Frequency Aggregator	Asian	Sub	160	G=0.688	T=0.312
Allele Frequency Aggregator	South Asian	Sub	110	G=0.791	T=0.209
8.3KJPN	JAPANESE	Study-wide	16758	G=0.79962	T=0.20038
1000Genomes_30x	Global	Study-wide	6404	G=0.7909	T=0.2091
1000Genomes_30x	African	Sub	1786	G=0.8768	T=0.1232
1000Genomes_30x	Europe	Sub	1266	G=0.8476	T=0.1524
1000Genomes_30x	South Asian	Sub	1202	G=0.7862	T=0.2138
1000Genomes_30x	East Asian	Sub	1170	G=0.7308	T=0.2692
1000Genomes_30x	American	Sub	980	G=0.639	T=0.361
1000Genomes	Global	Study-wide	5008	G=0.7935	T=0.2065
1000Genomes	African	Sub	1322	G=0.8752	T=0.1248
1000Genomes	East Asian	Sub	1008	G=0.7351	T=0.2649
1000Genomes	Europe	Sub	1006	G=0.8479	T=0.1521
1000Genomes	South Asian	Sub	978	G=0.792	T=0.208
1000Genomes	American	Sub	694	G=0.646	T=0.354
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8056	T=0.1944
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8316	T=0.1684
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8452	T=0.1548
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.8082	T=0.1918
HapMap	Global	Study-wide	1892	G=0.8192	T=0.1808
HapMap	American	Sub	770	G=0.788	T=0.212
HapMap	African	Sub	692	G=0.845	T=0.155
HapMap	Asian	Sub	254	G=0.807	T=0.193
HapMap	Europe	Sub	176	G=0.869	T=0.131
Korean Genome Project	KOREAN	Study-wide	1832	G=0.8122	T=0.1878
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.840	T=0.160
Chileans	Chilean	Study-wide	626	G=0.629	T=0.371
Northern Sweden	ACPOP	Study-wide	600	G=0.837	T=0.163
Qatari	Global	Study-wide	216	G=0.912	T=0.088
A Vietnamese Genetic Variation Database	Global	Study-wide	210	G=0.714	T=0.286
SGDP_PRJ	Global	Study-wide	196	G=0.388	T=0.612
The Danish reference pan genome	Danish	Study-wide	40	G=0.72	T=0.28
Siberian	Global	Study-wide	20	G=0.40	T=0.60

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.12462575G>T
GRCh37.p13 chr 11	NC_000011.9:g.12484122G>T

Gene: PARVA, parvin alpha (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PARVA transcript	NM_018222.5:c.137-11170G>T	N/A	Intron Variant
PARVA transcript variant X1	XM_005253015.4:c.5-11170G… XM_005253015.4:c.5-11170G>T	N/A	Intron Variant

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=	T
GRCh38.p14 chr 11	NC_000011.10:g.12462575=	NC_000011.10:g.12462575G>T
GRCh37.p13 chr 11	NC_000011.9:g.12484122=	NC_000011.9:g.12484122G>T
PARVA transcript	NM_018222.4:c.257-11170=	NM_018222.4:c.257-11170G>T
PARVA transcript	NM_018222.5:c.137-11170=	NM_018222.5:c.137-11170G>T
PARVA transcript variant X1	XM_005253015.1:c.5-11170=	XM_005253015.1:c.5-11170G>T
PARVA transcript variant X1	XM_005253015.4:c.5-11170=	XM_005253015.4:c.5-11170G>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#.

67 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss15486917	Feb 27, 2004 (120)
2	CSHL-HAPMAP	ss16534242	Feb 27, 2004 (120)
3	SC_SNP	ss18703232	Feb 27, 2004 (120)
4	SC_SNP	ss18931647	Feb 27, 2004 (120)
5	AFFY	ss66041472	Nov 29, 2006 (127)
6	PERLEGEN	ss69310142	May 16, 2007 (127)
7	AFFY	ss75935509	Dec 07, 2007 (129)
8	KRIBB_YJKIM	ss82758954	Dec 14, 2007 (130)
9	HGSV	ss85372393	Dec 14, 2007 (130)
10	BGI	ss102941019	Dec 01, 2009 (131)
11	1000GENOMES	ss114220672	Jan 25, 2009 (130)
12	GMI	ss155941460	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss169113247	Jul 04, 2010 (132)
14	AFFY	ss169349573	Jul 04, 2010 (132)
15	COMPLETE_GENOMICS	ss170507018	Jul 04, 2010 (132)
16	BUSHMAN	ss202414722	Jul 04, 2010 (132)
17	1000GENOMES	ss225098745	Jul 14, 2010 (132)
18	1000GENOMES	ss235451930	Jul 15, 2010 (132)
19	1000GENOMES	ss242104152	Jul 15, 2010 (132)
20	GMI	ss280889687	May 04, 2012 (137)
21	GMI	ss286319231	Apr 25, 2013 (138)
22	TISHKOFF	ss562394100	Apr 25, 2013 (138)
23	SSMP	ss657788330	Apr 25, 2013 (138)
24	EVA-GONL	ss988222173	Aug 21, 2014 (142)
25	JMKIDD_LAB	ss1077511437	Aug 21, 2014 (142)
26	1000GENOMES	ss1340161727	Aug 21, 2014 (142)
27	EVA_GENOME_DK	ss1575531315	Apr 01, 2015 (144)
28	EVA_DECODE	ss1597899455	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1626014071	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1669008104	Apr 01, 2015 (144)
31	EVA_SVP	ss1713234906	Apr 01, 2015 (144)
32	WEILL_CORNELL_DGM	ss1931585384	Feb 12, 2016 (147)
33	GENOMED	ss1967295443	Jul 19, 2016 (147)
34	JJLAB	ss2026536113	Sep 14, 2016 (149)
35	USC_VALOUEV	ss2154823224	Dec 20, 2016 (150)
36	HUMAN_LONGEVITY	ss2180277553	Dec 20, 2016 (150)
37	SYSTEMSBIOZJU	ss2627737578	Nov 08, 2017 (151)
38	GRF	ss2699095239	Nov 08, 2017 (151)
39	GNOMAD	ss2896451615	Nov 08, 2017 (151)
40	SWEGEN	ss3007617577	Nov 08, 2017 (151)
41	BIOINF_KMB_FNS_UNIBA	ss3027063271	Nov 08, 2017 (151)
42	CSHL	ss3349460142	Nov 08, 2017 (151)
43	EGCUT_WGS	ss3675015227	Jul 13, 2019 (153)
44	EVA_DECODE	ss3691237777	Jul 13, 2019 (153)
45	ACPOP	ss3737931902	Jul 13, 2019 (153)
46	EVA	ss3748957593	Jul 13, 2019 (153)
47	KHV_HUMAN_GENOMES	ss3814306565	Jul 13, 2019 (153)
48	EVA	ss3832485772	Apr 26, 2020 (154)
49	EVA	ss3839789869	Apr 26, 2020 (154)
50	EVA	ss3845266396	Apr 26, 2020 (154)
51	SGDP_PRJ	ss3875670561	Apr 26, 2020 (154)
52	KRGDB	ss3923901814	Apr 26, 2020 (154)
53	KOGIC	ss3969229053	Apr 26, 2020 (154)
54	TOPMED	ss4875556701	Apr 26, 2021 (155)
55	TOMMO_GENOMICS	ss5200731841	Apr 26, 2021 (155)
56	1000G_HIGH_COVERAGE	ss5286442775	Oct 16, 2022 (156)
57	GENOGRAPHIC	ss5314543875	Oct 16, 2022 (156)
58	EVA	ss5397809964	Oct 16, 2022 (156)
59	HUGCELL_USP	ss5481742306	Oct 16, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5581582492	Oct 16, 2022 (156)
61	SANFORD_IMAGENETICS	ss5650660708	Oct 16, 2022 (156)
62	TOMMO_GENOMICS	ss5747499360	Oct 16, 2022 (156)
63	YY_MCH	ss5812139241	Oct 16, 2022 (156)
64	EVA	ss5836279436	Oct 16, 2022 (156)
65	EVA	ss5849864132	Oct 16, 2022 (156)
66	EVA	ss5918874576	Oct 16, 2022 (156)
67	EVA	ss5941966884	Oct 16, 2022 (156)
68	1000Genomes	NC_000011.9 - 12484122	Oct 12, 2018 (152)
69	1000Genomes_30x	NC_000011.10 - 12462575	Oct 16, 2022 (156)
70	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 12484122	Oct 12, 2018 (152)
71	Chileans	NC_000011.9 - 12484122	Apr 26, 2020 (154)
72	Genetic variation in the Estonian population	NC_000011.9 - 12484122	Oct 12, 2018 (152)
73	Genographic Project	NC_000011.10 - 12462575	Oct 16, 2022 (156)
74	The Danish reference pan genome	NC_000011.9 - 12484122	Apr 26, 2020 (154)
75	gnomAD - Genomes	NC_000011.10 - 12462575	Apr 26, 2021 (155)
76	Genome of the Netherlands Release 5	NC_000011.9 - 12484122	Apr 26, 2020 (154)
77	HapMap	NC_000011.10 - 12462575	Apr 26, 2020 (154)
78	KOREAN population from KRGDB	NC_000011.9 - 12484122	Apr 26, 2020 (154)
79	Korean Genome Project	NC_000011.10 - 12462575	Apr 26, 2020 (154)
80	Northern Sweden	NC_000011.9 - 12484122	Jul 13, 2019 (153)
81	Qatari	NC_000011.9 - 12484122	Apr 26, 2020 (154)
82	SGDP_PRJ	NC_000011.9 - 12484122	Apr 26, 2020 (154)
83	Siberian	NC_000011.9 - 12484122	Apr 26, 2020 (154)
84	8.3KJPN	NC_000011.9 - 12484122	Apr 26, 2021 (155)
85	14KJPN	NC_000011.10 - 12462575	Oct 16, 2022 (156)
86	TopMed	NC_000011.10 - 12462575	Apr 26, 2021 (155)
87	UK 10K study - Twins	NC_000011.9 - 12484122	Oct 12, 2018 (152)
88	A Vietnamese Genetic Variation Database	NC_000011.9 - 12484122	Jul 13, 2019 (153)
89	ALFA	NC_000011.10 - 12462575	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)
rs57061862	Feb 26, 2009 (130)
rs57725656	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss66041472, ss75935509, ss85372393, ss114220672, ss169113247, ss169349573, ss170507018, ss202414722, ss280889687, ss286319231, ss1597899455, ss1713234906	NC_000011.8:12440697:G:T	NC_000011.10:12462574:G:T	(self)
52646090, 29243115, 68948, 20753475, 2448905, 13040748, 31079208, 11216767, 13627314, 27687541, 7339578, 58701148, 29243115, 6492454, ss225098745, ss235451930, ss242104152, ss562394100, ss657788330, ss988222173, ss1077511437, ss1340161727, ss1575531315, ss1626014071, ss1669008104, ss1931585384, ss1967295443, ss2026536113, ss2154823224, ss2627737578, ss2699095239, ss2896451615, ss3007617577, ss3349460142, ss3675015227, ss3737931902, ss3748957593, ss3832485772, ss3839789869, ss3875670561, ss3923901814, ss5200731841, ss5397809964, ss5650660708, ss5836279436, ss5941966884	NC_000011.9:12484121:G:T	NC_000011.10:12462574:G:T	(self)
69108427, 12708, 371655595, 552208, 25607054, 81336464, 91102357, 6807167227, ss2180277553, ss3027063271, ss3691237777, ss3814306565, ss3845266396, ss3969229053, ss4875556701, ss5286442775, ss5314543875, ss5481742306, ss5581582492, ss5747499360, ss5812139241, ss5849864132, ss5918874576	NC_000011.10:12462574:G:T	NC_000011.10:12462574:G:T	(self)
ss15486917, ss16534242, ss18703232, ss18931647	NT_009237.16:11248061:G:T	NC_000011.10:12462574:G:T	(self)
ss69310142, ss82758954, ss102941019, ss155941460	NT_009237.18:12424121:G:T	NC_000011.10:12462574:G: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 rs10765951

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

rs10765951