Name: rs10795294
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.

rs10795294

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:79069 (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: G=0.330829 (44204/133616, GnomAD)
A=0.38088 (10763/28258, 14KJPN)
A=0.37965 (6363/16760, 8.3KJPN) (+ 8 more)
G=0.30912 (5163/16702, ALFA)
G=0.4054 (2596/6404, 1000G_30x)
G=0.3225 (1615/5008, 1000G)
A=0.4109 (1204/2930, KOREAN)
G=0.283 (282/998, GoNL)
G=0.233 (110/472, SGDP_PRJ)
G=0.139 (30/216, Qatari)
G=0.29 (14/48, 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	16702	G=0.30912	A=0.69088
European	Sub	12214	G=0.26904	A=0.73096
African	Sub	2864	G=0.4319	A=0.5681
African Others	Sub	108	G=0.491	A=0.509
African American	Sub	2756	G=0.4296	A=0.5704
Asian	Sub	108	G=0.537	A=0.463
East Asian	Sub	84	G=0.54	A=0.46
Other Asian	Sub	24	G=0.54	A=0.46
Latin American 1	Sub	146	G=0.370	A=0.630
Latin American 2	Sub	610	G=0.474	A=0.526
South Asian	Sub	94	G=0.38	A=0.62
Other	Sub	666	G=0.305	A=0.695

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
gnomAD - Genomes	Global	Study-wide	133616	G=0.330829	A=0.669171
gnomAD - Genomes	European	Sub	72498	G=0.26699	A=0.73301
gnomAD - Genomes	African	Sub	39802	G=0.42098	A=0.57902
gnomAD - Genomes	American	Sub	13028	G=0.36836	A=0.63164
gnomAD - Genomes	Ashkenazi Jewish	Sub	3154	G=0.3060	A=0.6940
gnomAD - Genomes	East Asian	Sub	3090	G=0.5307	A=0.4693
gnomAD - Genomes	Other	Sub	2044	G=0.3366	A=0.6634
14KJPN	JAPANESE	Study-wide	28258	G=0.61912	A=0.38088
8.3KJPN	JAPANESE	Study-wide	16760	G=0.62035	A=0.37965
Allele Frequency Aggregator	Total	Global	16702	G=0.30912	A=0.69088
Allele Frequency Aggregator	European	Sub	12214	G=0.26904	A=0.73096
Allele Frequency Aggregator	African	Sub	2864	G=0.4319	A=0.5681
Allele Frequency Aggregator	Other	Sub	666	G=0.305	A=0.695
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.474	A=0.526
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.370	A=0.630
Allele Frequency Aggregator	Asian	Sub	108	G=0.537	A=0.463
Allele Frequency Aggregator	South Asian	Sub	94	G=0.38	A=0.62
1000Genomes_30x	Global	Study-wide	6404	G=0.4054	A=0.5946
1000Genomes_30x	African	Sub	1786	G=0.4334	A=0.5666
1000Genomes_30x	Europe	Sub	1266	G=0.2504	A=0.7496
1000Genomes_30x	South Asian	Sub	1202	G=0.4168	A=0.5832
1000Genomes_30x	East Asian	Sub	1170	G=0.5504	A=0.4496
1000Genomes_30x	American	Sub	980	G=0.367	A=0.633
1000Genomes	Global	Study-wide	5008	G=0.3225	A=0.6775
1000Genomes	African	Sub	1322	G=0.2579	A=0.7421
1000Genomes	East Asian	Sub	1008	G=0.5516	A=0.4484
1000Genomes	Europe	Sub	1006	G=0.1561	A=0.8439
1000Genomes	South Asian	Sub	978	G=0.358	A=0.642
1000Genomes	American	Sub	694	G=0.304	A=0.696
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.5891	A=0.4109
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.283	A=0.717
SGDP_PRJ	Global	Study-wide	472	G=0.233	A=0.767
Qatari	Global	Study-wide	216	G=0.139	A=0.861
Siberian	Global	Study-wide	48	G=0.29	A=0.71

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.79069G>A
GRCh37.p13 chr 10	NC_000010.10:g.125009G>A
TUBB8 RefSeqGene	NG_046777.1:g.2387C>T
GRCh37.p13 chr 10 fix patch HG905_PATCH	NW_003571043.1:g.69069G>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.79069=	NC_000010.11:g.79069G>A
GRCh37.p13 chr 10	NC_000010.10:g.125009=	NC_000010.10:g.125009G>A
TUBB8 RefSeqGene	NG_046777.1:g.2387=	NG_046777.1:g.2387C>T
GRCh37.p13 chr 10 fix patch HG905_PATCH	NW_003571043.1:g.69069=	NW_003571043.1:g.69069G>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#.

53 SubSNP, 11 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss16007630	Feb 27, 2004 (120)
2	SC_SNP	ss18428301	Feb 27, 2004 (120)
3	SC_SNP	ss18639997	Feb 27, 2004 (120)
4	SC_SNP	ss18883090	Feb 27, 2004 (120)
5	SSAHASNP	ss20722156	Apr 05, 2004 (121)
6	HGSV	ss85450310	Dec 15, 2007 (130)
7	BCMHGSC_JDW	ss88057397	Mar 23, 2008 (129)
8	ENSEMBL	ss107935978	Feb 05, 2009 (130)
9	1000GENOMES	ss109145715	Jan 23, 2009 (130)
10	ILLUMINA-UK	ss118963206	Feb 15, 2009 (130)
11	ENSEMBL	ss138810001	Dec 01, 2009 (131)
12	1000GENOMES	ss224512318	Jul 14, 2010 (132)
13	1000GENOMES	ss235012221	Jul 15, 2010 (132)
14	1000GENOMES	ss241753201	Jul 15, 2010 (132)
15	BL	ss253971499	May 09, 2011 (134)
16	GMI	ss280440363	May 04, 2012 (137)
17	GMI	ss286110754	Apr 25, 2013 (138)
18	PJP	ss290815781	May 09, 2011 (134)
19	SSMP	ss656208230	Apr 25, 2013 (138)
20	EVA-GONL	ss987096709	Aug 21, 2014 (142)
21	1000GENOMES	ss1335912625	Aug 21, 2014 (142)
22	DDI	ss1426189089	Apr 09, 2015 (144)
23	WEILL_CORNELL_DGM	ss1930414690	Feb 17, 2016 (147)
24	GENOMED	ss1967034960	Sep 28, 2016 (149)
25	JJLAB	ss2025929535	Sep 28, 2016 (149)
26	USC_VALOUEV	ss2154169584	Oct 12, 2018 (152)
27	GRF	ss2698388982	Oct 12, 2018 (152)
28	GNOMAD	ss2884518283	Oct 12, 2018 (152)
29	SWEGEN	ss3005784249	Oct 12, 2018 (152)
30	CSHL	ss3348911569	Oct 12, 2018 (152)
31	URBANLAB	ss3649265482	Oct 12, 2018 (152)
32	EVA_DECODE	ss3689095227	Jul 13, 2019 (153)
33	EVA	ss3747627264	Jul 13, 2019 (153)
34	PACBIO	ss3786553483	Jul 13, 2019 (153)
35	PACBIO	ss3791748139	Jul 13, 2019 (153)
36	PACBIO	ss3796629761	Jul 13, 2019 (153)
37	KHV_HUMAN_GENOMES	ss3812993249	Jul 13, 2019 (153)
38	EVA	ss3831916710	Apr 26, 2020 (154)
39	EVA	ss3844952610	Apr 26, 2020 (154)
40	SGDP_PRJ	ss3873326304	Apr 26, 2020 (154)
41	KRGDB	ss3921253279	Apr 26, 2020 (154)
42	GNOMAD	ss4211408786	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5195847782	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5282595875	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5575840951	Oct 16, 2022 (156)
46	SANFORD_IMAGENETICS	ss5648489308	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5740572516	Oct 16, 2022 (156)
48	YY_MCH	ss5811109514	Oct 16, 2022 (156)
49	EVA	ss5823842287	Oct 16, 2022 (156)
50	EVA	ss5849394409	Oct 16, 2022 (156)
51	EVA	ss5877371918	Oct 16, 2022 (156)
52	EVA	ss5939768727	Oct 16, 2022 (156)
53	EVA	ss5980588191	Oct 16, 2022 (156)
54	1000Genomes	NC_000010.10 - 125009	Oct 12, 2018 (152)
55	1000Genomes_30x	NC_000010.11 - 79069	Oct 16, 2022 (156)
56	gnomAD - Genomes	NC_000010.11 - 79069	Apr 26, 2021 (155)
57	Genome of the Netherlands Release 5	NC_000010.10 - 125009	Apr 26, 2020 (154)
58	KOREAN population from KRGDB	NC_000010.10 - 125009	Apr 26, 2020 (154)
59	Qatari	NC_000010.10 - 125009	Apr 26, 2020 (154)
60	SGDP_PRJ	NC_000010.10 - 125009	Apr 26, 2020 (154)
61	Siberian	NC_000010.10 - 125009	Apr 26, 2020 (154)
62	8.3KJPN	NC_000010.10 - 125009	Apr 26, 2021 (155)
63	14KJPN	NC_000010.11 - 79069	Oct 16, 2022 (156)
64	ALFA	NC_000010.11 - 79069	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)
rs58617927	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss85450310	NC_000010.8:115008:G:A	NC_000010.11:79068:G:A	(self)
ss88057397, ss109145715, ss118963206, ss253971499, ss280440363, ss286110754, ss290815781	NC_000010.9:115008:G:A	NC_000010.11:79068:G:A	(self)
48246321, 11953836, 28430673, 12456620, 25343284, 6685938, 53817089, ss224512318, ss235012221, ss241753201, ss656208230, ss987096709, ss1335912625, ss1426189089, ss1930414690, ss1967034960, ss2025929535, ss2154169584, ss2698388982, ss2884518283, ss3005784249, ss3348911569, ss3747627264, ss3786553483, ss3791748139, ss3796629761, ss3831916710, ss3873326304, ss3921253279, ss5195847782, ss5648489308, ss5823842287, ss5939768727, ss5980588191	NC_000010.10:125008:G:A	NC_000010.11:79068:G:A	(self)
63366886, 340931961, 74409620, 13009203291, ss3649265482, ss3689095227, ss3812993249, ss3844952610, ss4211408786, ss5282595875, ss5575840951, ss5740572516, ss5811109514, ss5849394409, ss5877371918	NC_000010.11:79068:G:A	NC_000010.11:79068:G:A	(self)
ss107935978, ss138810001	NT_008705.16:65008:G:A	NC_000010.11:79068:G:A	(self)
ss16007630, ss18428301, ss18639997, ss18883090, ss20722156	NT_077567.3:65008:G:A	NC_000010.11:79068: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 rs10795294

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

rs10795294