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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.

rs7069902

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6264349 (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=0.402097 (106431/264690, TOPMED)
T=0.411965 (57699/140058, GnomAD)
T=0.47755 (37583/78700, PAGE_STUDY) (+ 15 more)
T=0.34868 (9072/26018, ALFA)
C=0.37333 (6257/16760, 8.3KJPN)
T=0.3239 (1451/4480, Estonian)
T=0.3088 (1190/3854, ALSPAC)
T=0.3225 (1196/3708, TWINSUK)
C=0.3611 (1058/2930, KOREAN)
C=0.3865 (708/1832, Korea1K)
T=0.293 (292/998, GoNL)
T=0.307 (184/600, NorthernSweden)
T=0.302 (134/444, SGDP_PRJ)
T=0.468 (145/310, HapMap)
T=0.352 (76/216, Qatari)
C=0.396 (84/212, Vietnamese)
T=0.26 (12/46, Siberian)
T=0.33 (13/40, GENOME_DK)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 26018 T=0.34868 C=0.65132
European Sub 20562 T=0.31860 C=0.68140
African Sub 3384 T=0.4752 C=0.5248
African Others Sub 114 T=0.474 C=0.526
African American Sub 3270 T=0.4752 C=0.5248
Asian Sub 148 T=0.723 C=0.277
East Asian Sub 122 T=0.721 C=0.279
Other Asian Sub 26 T=0.73 C=0.27
Latin American 1 Sub 146 T=0.432 C=0.568
Latin American 2 Sub 610 T=0.467 C=0.533
South Asian Sub 106 T=0.415 C=0.585
Other Sub 1062 T=0.3898 C=0.6102


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=0.402097 C=0.597903
gnomAD - Genomes Global Study-wide 140058 T=0.411965 C=0.588035
gnomAD - Genomes European Sub 75850 T=0.32811 C=0.67189
gnomAD - Genomes African Sub 41974 T=0.54736 C=0.45264
gnomAD - Genomes American Sub 13634 T=0.41235 C=0.58765
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.4202 C=0.5798
gnomAD - Genomes East Asian Sub 3126 T=0.6004 C=0.3996
gnomAD - Genomes Other Sub 2152 T=0.4377 C=0.5623
The PAGE Study Global Study-wide 78700 T=0.47755 C=0.52245
The PAGE Study AfricanAmerican Sub 32514 T=0.48142 C=0.51858
The PAGE Study Mexican Sub 10810 T=0.45143 C=0.54857
The PAGE Study Asian Sub 8318 T=0.6545 C=0.3455
The PAGE Study PuertoRican Sub 7918 T=0.4159 C=0.5841
The PAGE Study NativeHawaiian Sub 4534 T=0.4892 C=0.5108
The PAGE Study Cuban Sub 4230 T=0.3915 C=0.6085
The PAGE Study Dominican Sub 3828 T=0.4501 C=0.5499
The PAGE Study CentralAmerican Sub 2450 T=0.4159 C=0.5841
The PAGE Study SouthAmerican Sub 1982 T=0.4642 C=0.5358
The PAGE Study NativeAmerican Sub 1260 T=0.3532 C=0.6468
The PAGE Study SouthAsian Sub 856 T=0.388 C=0.612
8.3KJPN JAPANESE Study-wide 16760 T=0.62667 C=0.37333
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.3239 C=0.6761
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.3088 C=0.6912
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.3225 C=0.6775
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6389 A=0.0000, C=0.3611
Korean Genome Project KOREAN Study-wide 1832 T=0.6135 C=0.3865
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.293 C=0.707
Northern Sweden ACPOP Study-wide 600 T=0.307 C=0.693
SGDP_PRJ Global Study-wide 444 T=0.302 C=0.698
HapMap Global Study-wide 310 T=0.468 C=0.532
HapMap American Sub 118 T=0.263 C=0.737
HapMap African Sub 116 T=0.629 C=0.371
HapMap Asian Sub 76 T=0.54 C=0.46
Qatari Global Study-wide 216 T=0.352 C=0.648
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.604 C=0.396
Siberian Global Study-wide 46 T=0.26 C=0.74
The Danish reference pan genome Danish Study-wide 40 T=0.33 C=0.68
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.6264349T>A
GRCh38.p13 chr 10 NC_000010.11:g.6264349T>C
GRCh37.p13 chr 10 NC_000010.10:g.6306312T>A
GRCh37.p13 chr 10 NC_000010.10:g.6306312T>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
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.6264349= NC_000010.11:g.6264349T>A NC_000010.11:g.6264349T>C
GRCh37.p13 chr 10 NC_000010.10:g.6306312= NC_000010.10:g.6306312T>A NC_000010.10:g.6306312T>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#.

70 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10585595 Jul 11, 2003 (116)
2 SC_SNP ss16093901 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss16464167 Feb 27, 2004 (120)
4 HGSV ss78160974 Dec 06, 2007 (129)
5 HGSV ss78759097 Dec 06, 2007 (129)
6 BCMHGSC_JDW ss88080906 Mar 23, 2008 (129)
7 BGI ss102850374 Dec 01, 2009 (131)
8 1000GENOMES ss109197387 Jan 23, 2009 (130)
9 ILLUMINA-UK ss119003871 Feb 15, 2009 (130)
10 ENSEMBL ss131661799 Dec 01, 2009 (131)
11 GMI ss154522700 Dec 01, 2009 (131)
12 ENSEMBL ss161352532 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss167743036 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss170369216 Jul 04, 2010 (132)
15 BUSHMAN ss201097443 Jul 04, 2010 (132)
16 BCM-HGSC-SUB ss207204409 Jul 04, 2010 (132)
17 1000GENOMES ss210889933 Jul 14, 2010 (132)
18 1000GENOMES ss224544523 Jul 14, 2010 (132)
19 1000GENOMES ss235038055 Jul 15, 2010 (132)
20 1000GENOMES ss241773871 Jul 15, 2010 (132)
21 BL ss254025762 May 09, 2011 (134)
22 GMI ss280464739 May 04, 2012 (137)
23 GMI ss286122472 Apr 25, 2013 (138)
24 PJP ss290900151 May 09, 2011 (134)
25 TISHKOFF ss561745379 Apr 25, 2013 (138)
26 SSMP ss656251603 Apr 25, 2013 (138)
27 EVA-GONL ss987157272 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1076731671 Aug 21, 2014 (142)
29 1000GENOMES ss1336129972 Aug 21, 2014 (142)
30 DDI ss1426208822 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1574889228 Apr 01, 2015 (144)
32 EVA_DECODE ss1596805225 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1623911687 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1666905720 Apr 01, 2015 (144)
35 WEILL_CORNELL_DGM ss1930478196 Feb 12, 2016 (147)
36 ILLUMINA ss1959236919 Feb 12, 2016 (147)
37 GENOMED ss1967049531 Jul 19, 2016 (147)
38 JJLAB ss2025962222 Sep 14, 2016 (149)
39 USC_VALOUEV ss2154204262 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2172358163 Dec 20, 2016 (150)
41 TOPMED ss2335067303 Dec 20, 2016 (150)
42 SYSTEMSBIOZJU ss2627450013 Nov 08, 2017 (151)
43 GRF ss2698428167 Nov 08, 2017 (151)
44 AFFY ss2984904474 Nov 08, 2017 (151)
45 SWEGEN ss3005875566 Nov 08, 2017 (151)
46 ILLUMINA ss3021210820 Nov 08, 2017 (151)
47 BIOINF_KMB_FNS_UNIBA ss3026764628 Nov 08, 2017 (151)
48 TOPMED ss3110663107 Nov 08, 2017 (151)
49 CSHL ss3348941928 Nov 08, 2017 (151)
50 ILLUMINA ss3651558723 Oct 12, 2018 (152)
51 ILLUMINA ss3653674138 Oct 12, 2018 (152)
52 EGCUT_WGS ss3673402671 Jul 13, 2019 (153)
53 EVA_DECODE ss3689206477 Jul 13, 2019 (153)
54 ILLUMINA ss3725132324 Jul 13, 2019 (153)
55 ACPOP ss3737026882 Jul 13, 2019 (153)
56 EVA ss3747699599 Jul 13, 2019 (153)
57 PAGE_CC ss3771539508 Jul 13, 2019 (153)
58 PACBIO ss3786570181 Jul 13, 2019 (153)
59 PACBIO ss3791764073 Jul 13, 2019 (153)
60 PACBIO ss3796645853 Jul 13, 2019 (153)
61 KHV_HUMAN_GENOMES ss3813062582 Jul 13, 2019 (153)
62 EVA ss3831947001 Apr 26, 2020 (154)
63 EVA ss3839504332 Apr 26, 2020 (154)
64 EVA ss3844970314 Apr 26, 2020 (154)
65 SGDP_PRJ ss3873453419 Apr 26, 2020 (154)
66 KRGDB ss3921388855 Apr 26, 2020 (154)
67 KOGIC ss3967131272 Apr 26, 2020 (154)
68 GNOMAD ss4212317964 Apr 26, 2021 (155)
69 TOPMED ss4841241801 Apr 26, 2021 (155)
70 TOMMO_GENOMICS ss5196096657 Apr 26, 2021 (155)
71 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6306312 Oct 12, 2018 (152)
72 Genetic variation in the Estonian population NC_000010.10 - 6306312 Oct 12, 2018 (152)
73 The Danish reference pan genome NC_000010.10 - 6306312 Apr 26, 2020 (154)
74 gnomAD - Genomes NC_000010.11 - 6264349 Apr 26, 2021 (155)
75 Genome of the Netherlands Release 5 NC_000010.10 - 6306312 Apr 26, 2020 (154)
76 HapMap NC_000010.11 - 6264349 Apr 26, 2020 (154)
77 KOREAN population from KRGDB NC_000010.10 - 6306312 Apr 26, 2020 (154)
78 Korean Genome Project NC_000010.11 - 6264349 Apr 26, 2020 (154)
79 Northern Sweden NC_000010.10 - 6306312 Jul 13, 2019 (153)
80 The PAGE Study NC_000010.11 - 6264349 Jul 13, 2019 (153)
81 Qatari NC_000010.10 - 6306312 Apr 26, 2020 (154)
82 SGDP_PRJ NC_000010.10 - 6306312 Apr 26, 2020 (154)
83 Siberian NC_000010.10 - 6306312 Apr 26, 2020 (154)
84 8.3KJPN NC_000010.10 - 6306312 Apr 26, 2021 (155)
85 TopMed NC_000010.11 - 6264349 Apr 26, 2021 (155)
86 UK 10K study - Twins NC_000010.10 - 6306312 Oct 12, 2018 (152)
87 A Vietnamese Genetic Variation Database NC_000010.10 - 6306312 Jul 13, 2019 (153)
88 ALFA NC_000010.11 - 6264349 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
28566249, ss3921388855 NC_000010.10:6306311:T:A NC_000010.11:6264348:T:A (self)
ss78160974, ss78759097 NC_000010.8:6346317:T:C NC_000010.11:6264348:T:C (self)
ss88080906, ss109197387, ss119003871, ss167743036, ss170369216, ss201097443, ss207204409, ss210889933, ss254025762, ss280464739, ss286122472, ss290900151, ss1596805225 NC_000010.9:6346317:T:C NC_000010.11:6264348:T:C (self)
26932076, 19140919, 2014432, 12012161, 28566249, 10311747, 12520126, 25470399, 6720616, 54065964, 26932076, 5978555, ss224544523, ss235038055, ss241773871, ss561745379, ss656251603, ss987157272, ss1076731671, ss1336129972, ss1426208822, ss1574889228, ss1623911687, ss1666905720, ss1930478196, ss1959236919, ss1967049531, ss2025962222, ss2154204262, ss2335067303, ss2627450013, ss2698428167, ss2984904474, ss3005875566, ss3021210820, ss3348941928, ss3651558723, ss3653674138, ss3673402671, ss3737026882, ss3747699599, ss3786570181, ss3791764073, ss3796645853, ss3831947001, ss3839504332, ss3873453419, ss3921388855, ss5196096657 NC_000010.10:6306311:T:C NC_000010.11:6264348:T:C (self)
342414810, 330050, 23509273, 760977, 35683025, 56787456, 10423440801, ss2172358163, ss3026764628, ss3110663107, ss3689206477, ss3725132324, ss3771539508, ss3813062582, ss3844970314, ss3967131272, ss4212317964, ss4841241801 NC_000010.11:6264348:T:C NC_000010.11:6264348:T:C (self)
ss102850374, ss131661799, ss154522700, ss161352532 NT_008705.16:6246311:T:C NC_000010.11:6264348:T:C (self)
ss10585595, ss16093901, ss16464167 NT_077569.2:669207:T:C NC_000010.11:6264348: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 rs7069902

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.post629+eb05767