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dbSNP Short Genetic Variations

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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr10:79068 (GRCh38.p13) 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.

G>C / G>T
Variation Type
SNV Single Nucleotide Variation
C=0.37965 (6363/16760, 8.3KJPN)
G=0.3314 (1672/5046, ALFA)
G=0.3221 (1613/5008, 1000G) (+ 5 more)
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
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: 20201027095038
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").

Study Population Group Sample Size Ref Allele Alt Allele
8.3KJPN JAPANESE Study-wide 16760 G=0.62035 C=0.37965
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.p13 chr 10 NC_000010.11:g.79068G>C
GRCh38.p13 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.p13 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#.

48 SubSNP, 10 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 TOPMED ss2334634773 Oct 12, 2018 (152)
29 GRF ss2698388981 Oct 12, 2018 (152)
30 GNOMAD ss2884518282 Oct 12, 2018 (152)
31 SWEGEN ss3005784248 Oct 12, 2018 (152)
32 TOPMED ss3109330550 Nov 08, 2017 (151)
33 TOPMED ss3109330551 Nov 08, 2017 (151)
34 CSHL ss3348911568 Oct 12, 2018 (152)
35 URBANLAB ss3649265481 Oct 12, 2018 (152)
36 EVA_DECODE ss3689095226 Jul 13, 2019 (153)
37 EVA ss3747627263 Jul 13, 2019 (153)
38 PACBIO ss3786553482 Jul 13, 2019 (153)
39 PACBIO ss3791748138 Jul 13, 2019 (153)
40 PACBIO ss3796629760 Jul 13, 2019 (153)
41 KHV_HUMAN_GENOMES ss3812993248 Jul 13, 2019 (153)
42 EVA ss3831916709 Apr 26, 2020 (154)
43 EVA ss3844952609 Apr 26, 2020 (154)
44 SGDP_PRJ ss3873326303 Apr 26, 2020 (154)
45 KRGDB ss3921253278 Apr 26, 2020 (154)
46 GNOMAD ss4211408784 Apr 26, 2021 (155)
47 GNOMAD ss4211408785 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5195847781 Apr 26, 2021 (155)
49 1000Genomes NC_000010.10 - 125008 Oct 12, 2018 (152)
50 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)
51 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)
52 Genome of the Netherlands Release 5 NC_000010.10 - 125008 Apr 26, 2020 (154)
53 KOREAN population from KRGDB NC_000010.10 - 125008 Apr 26, 2020 (154)
54 Qatari NC_000010.10 - 125008 Apr 26, 2020 (154)
55 SGDP_PRJ NC_000010.10 - 125008 Apr 26, 2020 (154)
56 Siberian NC_000010.10 - 125008 Apr 26, 2020 (154)
57 8.3KJPN NC_000010.10 - 125008 Apr 26, 2021 (155)
58 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, ss2334634773, ss2698388981, ss2884518282, ss3005784248, ss3348911568, ss3747627263, ss3786553482, ss3791748138, ss3796629760, ss3831916709, ss3873326303, ss3921253278, ss5195847781 NC_000010.10:125007:G:C NC_000010.11:79067:G:C (self)
5815000489, ss3109330550, ss3649265481, ss3689095226, ss3812993248, ss3844952609, ss4211408784 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, ss3109330551, 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.

Software version is: 2.0.1.post629+eb05767