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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.

rs7906831

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6278064 (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.

Alleles
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.053935 (14276/264690, TOPMED)
T=0.051194 (7167/139998, GnomAD)
T=0.02906 (549/18890, ALFA) (+ 11 more)
T=0.0551 (276/5008, 1000G)
T=0.0004 (2/4480, Estonian)
T=0.0005 (2/3854, ALSPAC)
T=0.0003 (1/3708, TWINSUK)
T=0.0000 (0/2930, KOREAN)
T=0.0000 (0/1832, Korea1K)
T=0.000 (0/600, NorthernSweden)
T=0.014 (8/556, SGDP_PRJ)
T=0.014 (3/216, Qatari)
T=0.00 (0/56, Siberian)
T=0.00 (0/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
Help

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.6278064T>A
GRCh38.p13 chr 10 NC_000010.11:g.6278064T>C
GRCh37.p13 chr 10 NC_000010.10:g.6320027T>A
GRCh37.p13 chr 10 NC_000010.10:g.6320027T>C
Help

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

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 18890 T=0.02906 C=0.97094
European Sub 14286 T=0.00077 C=0.99923
African Sub 2946 T=0.1721 C=0.8279
African Others Sub 114 T=0.193 C=0.807
African American Sub 2832 T=0.1713 C=0.8287
Asian Sub 112 T=0.000 C=1.000
East Asian Sub 86 T=0.00 C=1.00
Other Asian Sub 26 T=0.00 C=1.00
Latin American 1 Sub 146 T=0.014 C=0.986
Latin American 2 Sub 610 T=0.010 C=0.990
South Asian Sub 98 T=0.00 C=1.00
Other Sub 692 T=0.033 C=0.967


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.053935 C=0.946065
gnomAD - Genomes Global Study-wide 139998 T=0.051194 C=0.948806
gnomAD - Genomes European Sub 75910 T=0.00055 C=0.99945
gnomAD - Genomes African Sub 41834 T=0.16243 C=0.83757
gnomAD - Genomes American Sub 13648 T=0.01758 C=0.98242
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.0012 C=0.9988
gnomAD - Genomes East Asian Sub 3132 T=0.0000 C=1.0000
gnomAD - Genomes Other Sub 2150 T=0.0400 C=0.9600
1000Genomes Global Study-wide 5008 T=0.0551 C=0.9449
1000Genomes African Sub 1322 T=0.1982 C=0.8018
1000Genomes East Asian Sub 1008 T=0.0000 C=1.0000
1000Genomes Europe Sub 1006 T=0.0010 C=0.9990
1000Genomes South Asian Sub 978 T=0.000 C=1.000
1000Genomes American Sub 694 T=0.019 C=0.981
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.0004 C=0.9996
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.0005 C=0.9995
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.0003 C=0.9997
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.0000 C=1.0000
Korean Genome Project KOREAN Study-wide 1832 T=0.0000 C=1.0000
Northern Sweden ACPOP Study-wide 600 T=0.000 C=1.000
SGDP_PRJ Global Study-wide 556 T=0.014 C=0.986
Qatari Global Study-wide 216 T=0.014 C=0.986
Siberian Global Study-wide 56 T=0.00 C=1.00
The Danish reference pan genome Danish Study-wide 40 T=0.00 C=1.00
Help

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 T= A C
GRCh38.p13 chr 10 NC_000010.11:g.6278064= NC_000010.11:g.6278064T>A NC_000010.11:g.6278064T>C
GRCh37.p13 chr 10 NC_000010.10:g.6320027= NC_000010.10:g.6320027T>A NC_000010.10:g.6320027T>C
Help

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#.

59 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12084757 Jul 11, 2003 (116)
2 SC_SNP ss16093960 Feb 27, 2004 (120)
3 SSAHASNP ss20721484 Apr 05, 2004 (121)
4 HGSV ss82726244 Dec 15, 2007 (130)
5 BCMHGSC_JDW ss88080968 Mar 23, 2008 (129)
6 HUMANGENOME_JCVI ss97532706 Feb 05, 2009 (130)
7 ENSEMBL ss131661890 Dec 01, 2009 (131)
8 ENSEMBL ss137961406 Dec 01, 2009 (131)
9 GMI ss154522846 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss167743503 Jul 04, 2010 (132)
11 COMPLETE_GENOMICS ss168978976 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss170369490 Jul 04, 2010 (132)
13 BUSHMAN ss201097567 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss207388596 Jul 04, 2010 (132)
15 BL ss254025881 May 09, 2011 (134)
16 GMI ss280464788 May 04, 2012 (137)
17 GMI ss286122493 Apr 25, 2013 (138)
18 PJP ss290900179 May 09, 2011 (134)
19 1000GENOMES ss335918470 May 09, 2011 (134)
20 TISHKOFF ss561745454 Apr 25, 2013 (138)
21 SSMP ss656251685 Apr 25, 2013 (138)
22 JMKIDD_LAB ss1076731767 Aug 21, 2014 (142)
23 1000GENOMES ss1336130391 Aug 21, 2014 (142)
24 DDI ss1426208868 Apr 01, 2015 (144)
25 EVA_GENOME_DK ss1574889284 Apr 01, 2015 (144)
26 EVA_UK10K_ALSPAC ss1623911911 Apr 01, 2015 (144)
27 EVA_UK10K_TWINSUK ss1666905944 Apr 01, 2015 (144)
28 HAMMER_LAB ss1806238341 Sep 08, 2015 (146)
29 WEILL_CORNELL_DGM ss1930478314 Feb 12, 2016 (147)
30 GENOMED ss1967049577 Jul 19, 2016 (147)
31 JJLAB ss2025962301 Sep 14, 2016 (149)
32 USC_VALOUEV ss2154204331 Dec 20, 2016 (150)
33 HUMAN_LONGEVITY ss2172359027 Dec 20, 2016 (150)
34 TOPMED ss2335068110 Dec 20, 2016 (150)
35 SYSTEMSBIOZJU ss2627450058 Nov 08, 2017 (151)
36 GRF ss2698428249 Nov 08, 2017 (151)
37 GNOMAD ss2885105894 Nov 08, 2017 (151)
38 SWEGEN ss3005875731 Nov 08, 2017 (151)
39 TOPMED ss3110665640 Nov 08, 2017 (151)
40 CSHL ss3348941974 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3645115690 Oct 12, 2018 (152)
42 URBANLAB ss3649280482 Oct 12, 2018 (152)
43 EGCUT_WGS ss3673402841 Jul 13, 2019 (153)
44 EVA_DECODE ss3689206689 Jul 13, 2019 (153)
45 ACPOP ss3737026991 Jul 13, 2019 (153)
46 EVA ss3747699763 Jul 13, 2019 (153)
47 PACBIO ss3786570230 Jul 13, 2019 (153)
48 PACBIO ss3791764116 Jul 13, 2019 (153)
49 PACBIO ss3796645896 Jul 13, 2019 (153)
50 KHV_HUMAN_GENOMES ss3813062727 Jul 13, 2019 (153)
51 EVA ss3831947068 Apr 26, 2020 (154)
52 EVA ss3839504379 Apr 26, 2020 (154)
53 EVA ss3844970363 Apr 26, 2020 (154)
54 SGDP_PRJ ss3873453624 Apr 26, 2020 (154)
55 KRGDB ss3921389104 Apr 26, 2020 (154)
56 KOGIC ss3967131511 Apr 26, 2020 (154)
57 TOPMED ss4841245056 Apr 26, 2021 (155)
58 TOMMO_GENOMICS ss5196097144 Apr 26, 2021 (155)
59 TOMMO_GENOMICS ss5196097145 Apr 26, 2021 (155)
60 1000Genomes NC_000010.10 - 6320027 Oct 12, 2018 (152)
61 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6320027 Oct 12, 2018 (152)
62 Genetic variation in the Estonian population NC_000010.10 - 6320027 Oct 12, 2018 (152)
63 The Danish reference pan genome NC_000010.10 - 6320027 Apr 26, 2020 (154)
64 gnomAD - Genomes NC_000010.11 - 6278064 Apr 26, 2021 (155)
65 KOREAN population from KRGDB NC_000010.10 - 6320027 Apr 26, 2020 (154)
66 Korean Genome Project NC_000010.11 - 6278064 Apr 26, 2020 (154)
67 Northern Sweden NC_000010.10 - 6320027 Jul 13, 2019 (153)
68 Qatari NC_000010.10 - 6320027 Apr 26, 2020 (154)
69 SGDP_PRJ NC_000010.10 - 6320027 Apr 26, 2020 (154)
70 Siberian NC_000010.10 - 6320027 Apr 26, 2020 (154)
71 8.3KJPN

Submission ignored due to conflicting rows:
Row 54066451 (NC_000010.10:6320026:T:C 16753/16760)
Row 54066452 (NC_000010.10:6320026:T:A 1/16760)

- Apr 26, 2021 (155)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 54066451 (NC_000010.10:6320026:T:C 16753/16760)
Row 54066452 (NC_000010.10:6320026:T:A 1/16760)

- Apr 26, 2021 (155)
73 TopMed NC_000010.11 - 6278064 Apr 26, 2021 (155)
74 UK 10K study - Twins NC_000010.10 - 6320027 Oct 12, 2018 (152)
75 ALFA NC_000010.11 - 6278064 Apr 26, 2021 (155)
Help

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)
rs58925581 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss5196097145 NC_000010.10:6320026:T:A NC_000010.11:6278063:T:A
ss82726244 NC_000010.8:6360032:T:C NC_000010.11:6278063:T:C (self)
ss88080968, ss167743503, ss168978976, ss170369490, ss201097567, ss207388596, ss254025881, ss280464788, ss286122493, ss290900179 NC_000010.9:6360032:T:C NC_000010.11:6278063:T:C (self)
48471718, 26932336, 19141089, 2014487, 28566498, 10311856, 12520244, 25470604, 6720685, 26932336, ss335918470, ss561745454, ss656251685, ss1076731767, ss1336130391, ss1426208868, ss1574889284, ss1623911911, ss1666905944, ss1806238341, ss1930478314, ss1967049577, ss2025962301, ss2154204331, ss2335068110, ss2627450058, ss2698428249, ss2885105894, ss3005875731, ss3348941974, ss3673402841, ss3737026991, ss3747699763, ss3786570230, ss3791764116, ss3796645896, ss3831947068, ss3839504379, ss3873453624, ss3921389104, ss5196097144 NC_000010.10:6320026:T:C NC_000010.11:6278063:T:C (self)
342417602, 23509512, 35685115, 56790711, 5525576881, ss2172359027, ss3110665640, ss3645115690, ss3649280482, ss3689206689, ss3813062727, ss3844970363, ss3967131511, ss4841245056 NC_000010.11:6278063:T:C NC_000010.11:6278063:T:C (self)
ss97532706, ss131661890, ss137961406, ss154522846 NT_008705.16:6260026:T:C NC_000010.11:6278063:T:C (self)
ss12084757, ss16093960, ss20721484 NT_077569.2:682922:T:C NC_000010.11:6278063:T:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs7906831

Help

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.post596+ae089ad