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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.

rs6702910

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:99593479 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.499384 (132182/264690, TOPMED)
C=0.414880 (99533/239908, ALFA)
C=0.484637 (67541/139364, GnomAD) (+ 17 more)
T=0.42136 (33158/78692, PAGE_STUDY)
T=0.31348 (5254/16760, 8.3KJPN)
T=0.4169 (2088/5008, 1000G)
C=0.3980 (1783/4480, Estonian)
C=0.4019 (1549/3854, ALSPAC)
C=0.3962 (1469/3708, TWINSUK)
T=0.2870 (841/2930, KOREAN)
T=0.2953 (541/1832, Korea1K)
C=0.412 (411/998, GoNL)
T=0.338 (256/758, PRJEB37584)
C=0.423 (254/600, NorthernSweden)
C=0.339 (112/330, SGDP_PRJ)
T=0.408 (120/294, HapMap)
T=0.431 (93/216, Qatari)
T=0.257 (55/214, Vietnamese)
C=0.38 (16/42, Siberian)
C=0.42 (17/40, 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 1 NC_000001.11:g.99593479C>G
GRCh38.p13 chr 1 NC_000001.11:g.99593479C>T
GRCh37.p13 chr 1 NC_000001.10:g.100059035C>G
GRCh37.p13 chr 1 NC_000001.10:g.100059035C>T
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 239908 C=0.414880 T=0.585120
European Sub 216904 C=0.399038 T=0.600962
African Sub 6822 C=0.6444 T=0.3556
African Others Sub 262 C=0.702 T=0.298
African American Sub 6560 C=0.6421 T=0.3579
Asian Sub 3860 C=0.7031 T=0.2969
East Asian Sub 3128 C=0.6998 T=0.3002
Other Asian Sub 732 C=0.717 T=0.283
Latin American 1 Sub 962 C=0.501 T=0.499
Latin American 2 Sub 2526 C=0.4576 T=0.5424
South Asian Sub 366 C=0.631 T=0.369
Other Sub 8468 C=0.4725 T=0.5275


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 C=0.500616 T=0.499384
gnomAD - Genomes Global Study-wide 139364 C=0.484637 T=0.515363
gnomAD - Genomes European Sub 75614 C=0.38701 T=0.61299
gnomAD - Genomes African Sub 41656 C=0.64915 T=0.35085
gnomAD - Genomes American Sub 13530 C=0.48086 T=0.51914
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=0.4617 T=0.5383
gnomAD - Genomes East Asian Sub 3108 C=0.7117 T=0.2883
gnomAD - Genomes Other Sub 2138 C=0.4616 T=0.5384
The PAGE Study Global Study-wide 78692 C=0.57864 T=0.42136
The PAGE Study AfricanAmerican Sub 32510 C=0.64026 T=0.35974
The PAGE Study Mexican Sub 10810 C=0.46799 T=0.53201
The PAGE Study Asian Sub 8318 C=0.6728 T=0.3272
The PAGE Study PuertoRican Sub 7916 C=0.4865 T=0.5135
The PAGE Study NativeHawaiian Sub 4532 C=0.6586 T=0.3414
The PAGE Study Cuban Sub 4230 C=0.4442 T=0.5558
The PAGE Study Dominican Sub 3828 C=0.5389 T=0.4611
The PAGE Study CentralAmerican Sub 2450 C=0.4955 T=0.5045
The PAGE Study SouthAmerican Sub 1982 C=0.4939 T=0.5061
The PAGE Study NativeAmerican Sub 1260 C=0.4540 T=0.5460
The PAGE Study SouthAsian Sub 856 C=0.609 T=0.391
8.3KJPN JAPANESE Study-wide 16760 C=0.68652 T=0.31348
1000Genomes Global Study-wide 5008 C=0.5831 T=0.4169
1000Genomes African Sub 1322 C=0.6710 T=0.3290
1000Genomes East Asian Sub 1008 C=0.6905 T=0.3095
1000Genomes Europe Sub 1006 C=0.3926 T=0.6074
1000Genomes South Asian Sub 978 C=0.639 T=0.361
1000Genomes American Sub 694 C=0.457 T=0.543
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.3980 T=0.6020
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.4019 T=0.5981
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.3962 T=0.6038
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7130 G=0.0000, T=0.2870
Korean Genome Project KOREAN Study-wide 1832 C=0.7047 T=0.2953
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.412 T=0.588
CNV burdens in cranial meningiomas Global Study-wide 758 C=0.662 T=0.338
CNV burdens in cranial meningiomas CRM Sub 758 C=0.662 T=0.338
Northern Sweden ACPOP Study-wide 600 C=0.423 T=0.577
SGDP_PRJ Global Study-wide 330 C=0.339 T=0.661
HapMap Global Study-wide 294 C=0.592 T=0.408
HapMap American Sub 110 C=0.436 T=0.564
HapMap African Sub 104 C=0.692 T=0.308
HapMap Asian Sub 80 C=0.68 T=0.33
Qatari Global Study-wide 216 C=0.569 T=0.431
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.743 T=0.257
Siberian Global Study-wide 42 C=0.38 T=0.62
The Danish reference pan genome Danish Study-wide 40 C=0.42 T=0.57
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 C= G T
GRCh38.p13 chr 1 NC_000001.11:g.99593479= NC_000001.11:g.99593479C>G NC_000001.11:g.99593479C>T
GRCh37.p13 chr 1 NC_000001.10:g.100059035= NC_000001.10:g.100059035C>G NC_000001.10:g.100059035C>T
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#.

97 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss9903423 Jul 11, 2003 (116)
2 SSAHASNP ss20472351 Apr 05, 2004 (121)
3 ABI ss41198519 Mar 13, 2006 (126)
4 BCMHGSC_JDW ss87656523 Mar 23, 2008 (129)
5 HUMANGENOME_JCVI ss97961339 Feb 04, 2009 (130)
6 BGI ss102767821 Dec 01, 2009 (131)
7 1000GENOMES ss108453688 Jan 23, 2009 (130)
8 1000GENOMES ss110891046 Jan 25, 2009 (130)
9 ILLUMINA-UK ss118919209 Feb 15, 2009 (130)
10 ENSEMBL ss138045099 Dec 01, 2009 (131)
11 ENSEMBL ss138842482 Dec 01, 2009 (131)
12 GMI ss155415571 Dec 01, 2009 (131)
13 ILLUMINA ss160799895 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss163739146 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss164869122 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss166904721 Jul 04, 2010 (132)
17 BCM-HGSC-SUB ss205079381 Jul 04, 2010 (132)
18 1000GENOMES ss218548667 Jul 14, 2010 (132)
19 1000GENOMES ss230656750 Jul 14, 2010 (132)
20 1000GENOMES ss238323715 Jul 15, 2010 (132)
21 GMI ss275945326 May 04, 2012 (137)
22 PJP ss290580501 May 09, 2011 (134)
23 ILLUMINA ss481323431 May 04, 2012 (137)
24 ILLUMINA ss481348621 May 04, 2012 (137)
25 ILLUMINA ss482329911 Sep 08, 2015 (146)
26 ILLUMINA ss485456845 May 04, 2012 (137)
27 ILLUMINA ss537380762 Sep 08, 2015 (146)
28 TISHKOFF ss554480693 Apr 25, 2013 (138)
29 SSMP ss648253972 Apr 25, 2013 (138)
30 ILLUMINA ss778577048 Sep 08, 2015 (146)
31 ILLUMINA ss783173900 Sep 08, 2015 (146)
32 ILLUMINA ss784129367 Sep 08, 2015 (146)
33 ILLUMINA ss832433468 Sep 08, 2015 (146)
34 ILLUMINA ss834034133 Sep 08, 2015 (146)
35 EVA-GONL ss975483064 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1068127738 Aug 21, 2014 (142)
37 1000GENOMES ss1292107973 Aug 21, 2014 (142)
38 DDI ss1425911001 Apr 01, 2015 (144)
39 EVA_GENOME_DK ss1574271609 Apr 01, 2015 (144)
40 EVA_DECODE ss1584861369 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1600817109 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1643811142 Apr 01, 2015 (144)
43 ILLUMINA ss1751859116 Sep 08, 2015 (146)
44 HAMMER_LAB ss1794807716 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1918682653 Feb 12, 2016 (147)
46 ILLUMINA ss1946002825 Feb 12, 2016 (147)
47 ILLUMINA ss1958296795 Feb 12, 2016 (147)
48 GENOMED ss1966820789 Jul 19, 2016 (147)
49 JJLAB ss2019862825 Sep 14, 2016 (149)
50 USC_VALOUEV ss2147881528 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2165031744 Dec 20, 2016 (150)
52 TOPMED ss2327382558 Dec 20, 2016 (150)
53 ILLUMINA ss2632553627 Nov 08, 2017 (151)
54 GRF ss2697808859 Nov 08, 2017 (151)
55 ILLUMINA ss2710678276 Nov 08, 2017 (151)
56 GNOMAD ss2758638580 Nov 08, 2017 (151)
57 SWEGEN ss2987305768 Nov 08, 2017 (151)
58 ILLUMINA ss3021113799 Nov 08, 2017 (151)
59 BIOINF_KMB_FNS_UNIBA ss3023695000 Nov 08, 2017 (151)
60 TOPMED ss3084651918 Nov 08, 2017 (151)
61 CSHL ss3343595951 Nov 08, 2017 (151)
62 ILLUMINA ss3625546136 Oct 11, 2018 (152)
63 ILLUMINA ss3626165294 Oct 11, 2018 (152)
64 ILLUMINA ss3630587801 Oct 11, 2018 (152)
65 ILLUMINA ss3632903285 Oct 11, 2018 (152)
66 ILLUMINA ss3633598283 Oct 11, 2018 (152)
67 ILLUMINA ss3634339258 Oct 11, 2018 (152)
68 ILLUMINA ss3635291894 Oct 11, 2018 (152)
69 ILLUMINA ss3636016813 Oct 11, 2018 (152)
70 ILLUMINA ss3637042350 Oct 11, 2018 (152)
71 ILLUMINA ss3640046618 Oct 11, 2018 (152)
72 ILLUMINA ss3644498787 Oct 11, 2018 (152)
73 URBANLAB ss3646731452 Oct 11, 2018 (152)
74 ILLUMINA ss3651444581 Oct 11, 2018 (152)
75 EGCUT_WGS ss3655390877 Jul 12, 2019 (153)
76 EVA_DECODE ss3687367270 Jul 12, 2019 (153)
77 ILLUMINA ss3725048140 Jul 12, 2019 (153)
78 ACPOP ss3727314126 Jul 12, 2019 (153)
79 ILLUMINA ss3744050997 Jul 12, 2019 (153)
80 ILLUMINA ss3744640227 Jul 12, 2019 (153)
81 EVA ss3746574204 Jul 12, 2019 (153)
82 PAGE_CC ss3770828003 Jul 12, 2019 (153)
83 ILLUMINA ss3772141464 Jul 12, 2019 (153)
84 PACBIO ss3783495904 Jul 12, 2019 (153)
85 PACBIO ss3789140938 Jul 12, 2019 (153)
86 PACBIO ss3794013782 Jul 12, 2019 (153)
87 KHV_HUMAN_GENOMES ss3799574975 Jul 12, 2019 (153)
88 EVA ss3826326604 Apr 25, 2020 (154)
89 EVA ss3836553575 Apr 25, 2020 (154)
90 EVA ss3841961572 Apr 25, 2020 (154)
91 SGDP_PRJ ss3849477717 Apr 25, 2020 (154)
92 KRGDB ss3894555765 Apr 25, 2020 (154)
93 KOGIC ss3945091467 Apr 25, 2020 (154)
94 EVA ss3984461731 Apr 25, 2021 (155)
95 EVA ss4016927695 Apr 25, 2021 (155)
96 TOPMED ss4460700589 Apr 25, 2021 (155)
97 TOMMO_GENOMICS ss5145313551 Apr 25, 2021 (155)
98 1000Genomes NC_000001.10 - 100059035 Oct 11, 2018 (152)
99 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 100059035 Oct 11, 2018 (152)
100 Genetic variation in the Estonian population NC_000001.10 - 100059035 Oct 11, 2018 (152)
101 The Danish reference pan genome NC_000001.10 - 100059035 Apr 25, 2020 (154)
102 gnomAD - Genomes NC_000001.11 - 99593479 Apr 25, 2021 (155)
103 Genome of the Netherlands Release 5 NC_000001.10 - 100059035 Apr 25, 2020 (154)
104 HapMap NC_000001.11 - 99593479 Apr 25, 2020 (154)
105 KOREAN population from KRGDB NC_000001.10 - 100059035 Apr 25, 2020 (154)
106 Korean Genome Project NC_000001.11 - 99593479 Apr 25, 2020 (154)
107 Northern Sweden NC_000001.10 - 100059035 Jul 12, 2019 (153)
108 The PAGE Study NC_000001.11 - 99593479 Jul 12, 2019 (153)
109 CNV burdens in cranial meningiomas NC_000001.10 - 100059035 Apr 25, 2021 (155)
110 Qatari NC_000001.10 - 100059035 Apr 25, 2020 (154)
111 SGDP_PRJ NC_000001.10 - 100059035 Apr 25, 2020 (154)
112 Siberian NC_000001.10 - 100059035 Apr 25, 2020 (154)
113 8.3KJPN NC_000001.10 - 100059035 Apr 25, 2021 (155)
114 TopMed NC_000001.11 - 99593479 Apr 25, 2021 (155)
115 UK 10K study - Twins NC_000001.10 - 100059035 Oct 11, 2018 (152)
116 A Vietnamese Genetic Variation Database NC_000001.10 - 100059035 Jul 12, 2019 (153)
117 ALFA NC_000001.11 - 99593479 Apr 25, 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
1733159, ss3894555765 NC_000001.10:100059034:C:G NC_000001.11:99593478:C:G (self)
ss87656523, ss108453688, ss110891046, ss118919209, ss163739146, ss164869122, ss166904721, ss205079381, ss275945326, ss290580501, ss481323431, ss1584861369 NC_000001.9:99831622:C:T NC_000001.11:99593478:C:T (self)
2871546, 1584051, 1129125, 1628971, 687161, 1733159, 598991, 11043, 724583, 1494697, 397882, 3282858, 1584051, 341220, ss218548667, ss230656750, ss238323715, ss481348621, ss482329911, ss485456845, ss537380762, ss554480693, ss648253972, ss778577048, ss783173900, ss784129367, ss832433468, ss834034133, ss975483064, ss1068127738, ss1292107973, ss1425911001, ss1574271609, ss1600817109, ss1643811142, ss1751859116, ss1794807716, ss1918682653, ss1946002825, ss1958296795, ss1966820789, ss2019862825, ss2147881528, ss2327382558, ss2632553627, ss2697808859, ss2710678276, ss2758638580, ss2987305768, ss3021113799, ss3343595951, ss3625546136, ss3626165294, ss3630587801, ss3632903285, ss3633598283, ss3634339258, ss3635291894, ss3636016813, ss3637042350, ss3640046618, ss3644498787, ss3651444581, ss3655390877, ss3727314126, ss3744050997, ss3744640227, ss3746574204, ss3772141464, ss3783495904, ss3789140938, ss3794013782, ss3826326604, ss3836553575, ss3849477717, ss3894555765, ss3984461731, ss4016927695, ss5145313551 NC_000001.10:100059034:C:T NC_000001.11:99593478:C:T (self)
20299055, 136575, 1469468, 49472, 15309140, 24306924, 12116379069, ss2165031744, ss3023695000, ss3084651918, ss3646731452, ss3687367270, ss3725048140, ss3770828003, ss3799574975, ss3841961572, ss3945091467, ss4460700589 NC_000001.11:99593478:C:T NC_000001.11:99593478:C:T (self)
ss9903423 NT_028050.12:932705:C:T NC_000001.11:99593478:C:T (self)
ss20472351 NT_028050.13:8247978:C:T NC_000001.11:99593478:C:T (self)
ss41198519, ss97961339, ss102767821, ss138045099, ss138842482, ss155415571, ss160799895 NT_032977.9:70030952:C:T NC_000001.11:99593478:C:T (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 rs6702910

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