Name: rs10795293
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.

rs10795293

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:79068 (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>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.38088 (10763/28258, 14KJPN)
C=0.37965 (6363/16760, 8.3KJPN)
G=0.4047 (2592/6404, 1000G_30x) (+ 7 more)
G=0.3314 (1672/5046, ALFA)
G=0.3221 (1613/5008, 1000G)
C=0.4109 (1204/2930, KOREAN)
G=0.284 (283/998, GoNL)
G=0.235 (111/472, 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	5046	G=0.3314	C=0.6686, T=0.0000
European	Sub	4638	G=0.2740	C=0.7260, T=0.0000
African	Sub	208	G=1.000	C=0.000, T=0.000
African Others	Sub	20	G=1.00	C=0.00, T=0.00
African American	Sub	188	G=1.000	C=0.000, T=0.000
Asian	Sub	30	G=1.00	C=0.00, T=0.00
East Asian	Sub	24	G=1.00	C=0.00, T=0.00
Other Asian	Sub	6	G=1.0	C=0.0, T=0.0
Latin American 1	Sub	8	G=1.0	C=0.0, T=0.0
Latin American 2	Sub	114	G=1.000	C=0.000, T=0.000
South Asian	Sub	14	G=1.00	C=0.00, T=0.00
Other	Sub	34	G=0.79	C=0.21, T=0.00

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
14KJPN	JAPANESE	Study-wide	28258	G=0.61912	C=0.38088
8.3KJPN	JAPANESE	Study-wide	16760	G=0.62035	C=0.37965
1000Genomes_30x	Global	Study-wide	6404	G=0.4047	C=0.5953
1000Genomes_30x	African	Sub	1786	G=0.4334	C=0.5666
1000Genomes_30x	Europe	Sub	1266	G=0.2496	C=0.7504
1000Genomes_30x	South Asian	Sub	1202	G=0.4143	C=0.5857
1000Genomes_30x	East Asian	Sub	1170	G=0.5504	C=0.4496
1000Genomes_30x	American	Sub	980	G=0.367	C=0.633
Allele Frequency Aggregator	Total	Global	5046	G=0.3314	C=0.6686, T=0.0000
Allele Frequency Aggregator	European	Sub	4638	G=0.2740	C=0.7260, T=0.0000
Allele Frequency Aggregator	African	Sub	208	G=1.000	C=0.000, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	114	G=1.000	C=0.000, T=0.000
Allele Frequency Aggregator	Other	Sub	34	G=0.79	C=0.21, T=0.00
Allele Frequency Aggregator	Asian	Sub	30	G=1.00	C=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	14	G=1.00	C=0.00, T=0.00
Allele Frequency Aggregator	Latin American 1	Sub	8	G=1.0	C=0.0, T=0.0
1000Genomes	Global	Study-wide	5008	G=0.3221	C=0.6779
1000Genomes	African	Sub	1322	G=0.2579	C=0.7421
1000Genomes	East Asian	Sub	1008	G=0.5516	C=0.4484
1000Genomes	Europe	Sub	1006	G=0.1551	C=0.8449
1000Genomes	South Asian	Sub	978	G=0.357	C=0.643
1000Genomes	American	Sub	694	G=0.304	C=0.696
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.5891	C=0.4109
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.284	C=0.716
SGDP_PRJ	Global	Study-wide	472	G=0.235	C=0.765
Qatari	Global	Study-wide	216	G=0.139	C=0.861
Siberian	Global	Study-wide	48	G=0.29	C=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.79068G>C
GRCh38.p14 chr 10	NC_000010.11:g.79068G>T
GRCh37.p13 chr 10	NC_000010.10:g.125008G>C
GRCh37.p13 chr 10	NC_000010.10:g.125008G>T
TUBB8 RefSeqGene	NG_046777.1:g.2388C>G
TUBB8 RefSeqGene	NG_046777.1:g.2388C>A
GRCh37.p13 chr 10 fix patch HG905_PATCH	NW_003571043.1:g.69068G>C
GRCh37.p13 chr 10 fix patch HG905_PATCH	NW_003571043.1:g.69068G>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	G=	C	T
GRCh38.p14 chr 10	NC_000010.11:g.79068=	NC_000010.11:g.79068G>C	NC_000010.11:g.79068G>T
GRCh37.p13 chr 10	NC_000010.10:g.125008=	NC_000010.10:g.125008G>C	NC_000010.10:g.125008G>T
TUBB8 RefSeqGene	NG_046777.1:g.2388=	NG_046777.1:g.2388C>G	NG_046777.1:g.2388C>A
GRCh37.p13 chr 10 fix patch HG905_PATCH	NW_003571043.1:g.69068=	NW_003571043.1:g.69068G>C	NW_003571043.1:g.69068G>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#.

55 SubSNP, 12 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss15977196	Feb 27, 2004 (120)
2	SC_SNP	ss18428300	Feb 27, 2004 (120)
3	SC_SNP	ss18639996	Feb 27, 2004 (120)
4	SC_SNP	ss18883089	Feb 27, 2004 (120)
5	SSAHASNP	ss20722154	Apr 05, 2004 (121)
6	HGSV	ss84331947	Dec 14, 2007 (130)
7	BCMHGSC_JDW	ss88057395	Mar 23, 2008 (129)
8	ENSEMBL	ss107935977	Feb 03, 2009 (130)
9	1000GENOMES	ss109145711	Jan 23, 2009 (130)
10	ILLUMINA-UK	ss118963204	Feb 15, 2009 (130)
11	ENSEMBL	ss138810005	Dec 01, 2009 (131)
12	1000GENOMES	ss224512317	Jul 14, 2010 (132)
13	1000GENOMES	ss235012220	Jul 15, 2010 (132)
14	1000GENOMES	ss241753200	Jul 15, 2010 (132)
15	BL	ss253971497	May 09, 2011 (134)
16	GMI	ss280440362	May 04, 2012 (137)
17	GMI	ss286110753	Apr 25, 2013 (138)
18	PJP	ss290815780	May 09, 2011 (134)
19	SSMP	ss656208229	Apr 25, 2013 (138)
20	EVA-GONL	ss987096708	Aug 21, 2014 (142)
21	JMKIDD_LAB	ss1076687373	Aug 21, 2014 (142)
22	1000GENOMES	ss1335912624	Aug 21, 2014 (142)
23	DDI	ss1426189088	Apr 09, 2015 (144)
24	WEILL_CORNELL_DGM	ss1930414689	Feb 17, 2016 (147)
25	GENOMED	ss1967034959	Sep 28, 2016 (149)
26	JJLAB	ss2025929534	Sep 28, 2016 (149)
27	USC_VALOUEV	ss2154169583	Oct 12, 2018 (152)
28	GRF	ss2698388981	Oct 12, 2018 (152)
29	GNOMAD	ss2884518282	Oct 12, 2018 (152)
30	SWEGEN	ss3005784248	Oct 12, 2018 (152)
31	CSHL	ss3348911568	Oct 12, 2018 (152)
32	URBANLAB	ss3649265481	Oct 12, 2018 (152)
33	EVA_DECODE	ss3689095226	Jul 13, 2019 (153)
34	EVA	ss3747627263	Jul 13, 2019 (153)
35	PACBIO	ss3786553482	Jul 13, 2019 (153)
36	PACBIO	ss3791748138	Jul 13, 2019 (153)
37	PACBIO	ss3796629760	Jul 13, 2019 (153)
38	KHV_HUMAN_GENOMES	ss3812993248	Jul 13, 2019 (153)
39	EVA	ss3831916709	Apr 26, 2020 (154)
40	EVA	ss3844952609	Apr 26, 2020 (154)
41	SGDP_PRJ	ss3873326303	Apr 26, 2020 (154)
42	KRGDB	ss3921253278	Apr 26, 2020 (154)
43	GNOMAD	ss4211408784	Apr 26, 2021 (155)
44	GNOMAD	ss4211408785	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5195847781	Apr 26, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5282595874	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5575840950	Oct 16, 2022 (156)
48	SANFORD_IMAGENETICS	ss5648489307	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5740572515	Oct 16, 2022 (156)
50	YY_MCH	ss5811109513	Oct 16, 2022 (156)
51	EVA	ss5823842286	Oct 16, 2022 (156)
52	EVA	ss5849394408	Oct 16, 2022 (156)
53	EVA	ss5877371917	Oct 16, 2022 (156)
54	EVA	ss5939768726	Oct 16, 2022 (156)
55	EVA	ss5980588190	Oct 16, 2022 (156)
56	1000Genomes	NC_000010.10 - 125008	Oct 12, 2018 (152)
57	1000Genomes_30x	NC_000010.11 - 79068	Oct 16, 2022 (156)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 340931959 (NC_000010.11:79067:G:C 89426/133618) Row 340931960 (NC_000010.11:79067:G:T 2/133782)	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 340931959 (NC_000010.11:79067:G:C 89426/133618) Row 340931960 (NC_000010.11:79067:G:T 2/133782)	-	Apr 26, 2021 (155)
60	Genome of the Netherlands Release 5	NC_000010.10 - 125008	Apr 26, 2020 (154)
61	KOREAN population from KRGDB	NC_000010.10 - 125008	Apr 26, 2020 (154)
62	Qatari	NC_000010.10 - 125008	Apr 26, 2020 (154)
63	SGDP_PRJ	NC_000010.10 - 125008	Apr 26, 2020 (154)
64	Siberian	NC_000010.10 - 125008	Apr 26, 2020 (154)
65	8.3KJPN	NC_000010.10 - 125008	Apr 26, 2021 (155)
66	14KJPN	NC_000010.11 - 79068	Oct 16, 2022 (156)
67	ALFA	NC_000010.11 - 79068	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)
rs56883561	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss84331947	NC_000010.8:115007:G:C	NC_000010.11:79067:G:C	(self)
ss88057395, ss109145711, ss118963204, ss253971497, ss280440362, ss286110753, ss290815780	NC_000010.9:115007:G:C	NC_000010.11:79067:G:C	(self)
48246320, 11953835, 28430672, 12456619, 25343283, 6685937, 53817088, ss224512317, ss235012220, ss241753200, ss656208229, ss987096708, ss1076687373, ss1335912624, ss1426189088, ss1930414689, ss1967034959, ss2025929534, ss2154169583, ss2698388981, ss2884518282, ss3005784248, ss3348911568, ss3747627263, ss3786553482, ss3791748138, ss3796629760, ss3831916709, ss3873326303, ss3921253278, ss5195847781, ss5648489307, ss5823842286, ss5939768726, ss5980588190	NC_000010.10:125007:G:C	NC_000010.11:79067:G:C	(self)
63366885, 74409619, 5815000489, ss3649265481, ss3689095226, ss3812993248, ss3844952609, ss4211408784, ss5282595874, ss5575840950, ss5740572515, ss5811109513, ss5849394408, ss5877371917	NC_000010.11:79067:G:C	NC_000010.11:79067:G:C	(self)
ss107935977, ss138810005	NT_008705.16:65007:G:C	NC_000010.11:79067:G:C	(self)
ss15977196, ss18428300, ss18639996, ss18883089, ss20722154	NT_077567.3:65007:G:C	NC_000010.11:79067:G:C	(self)
5815000489, ss4211408785	NC_000010.11:79067:G:T	NC_000010.11:79067: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 rs10795293

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

rs10795293