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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.

rs7906287

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:89913 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.226015 (59824/264690, TOPMED)
A=0.170453 (27805/163124, ALFA)
A=0.206422 (28876/139888, GnomAD) (+ 17 more)
G=0.38222 (6406/16760, 8.3KJPN)
A=0.3183 (1594/5008, 1000G)
A=0.1743 (781/4480, Estonian)
A=0.1648 (635/3854, ALSPAC)
A=0.1729 (641/3708, TWINSUK)
G=0.4215 (1235/2930, KOREAN)
A=0.3191 (665/2084, HGDP_Stanford)
A=0.3300 (623/1888, HapMap)
A=0.150 (150/998, GoNL)
G=0.471 (368/782, PRJEB37584)
A=0.193 (116/600, NorthernSweden)
A=0.218 (104/476, SGDP_PRJ)
A=0.139 (30/216, Qatari)
A=0.472 (100/212, Vietnamese)
A=0.25 (12/48, Siberian)
A=0.17 (7/40, GENOME_DK)
A=0.00 (0/24, Ancient Sardinia)
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.89913A>G
GRCh37.p13 chr 10 NC_000010.10:g.135853A>G
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.79913A>G
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 163124 A=0.170453 G=0.829547
European Sub 136554 A=0.147517 G=0.852483
African Sub 6512 A=0.2508 G=0.7492
African Others Sub 200 A=0.265 G=0.735
African American Sub 6312 A=0.2503 G=0.7497
Asian Sub 570 A=0.544 G=0.456
East Asian Sub 460 A=0.567 G=0.433
Other Asian Sub 110 A=0.445 G=0.555
Latin American 1 Sub 530 A=0.164 G=0.836
Latin American 2 Sub 7778 A=0.3717 G=0.6283
South Asian Sub 5016 A=0.3058 G=0.6942
Other Sub 6164 A=0.1957 G=0.8043


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 A=0.226015 G=0.773985
gnomAD - Genomes Global Study-wide 139888 A=0.206422 G=0.793578
gnomAD - Genomes European Sub 75802 A=0.16157 G=0.83843
gnomAD - Genomes African Sub 41892 A=0.24790 G=0.75210
gnomAD - Genomes American Sub 13604 A=0.27396 G=0.72604
gnomAD - Genomes Ashkenazi Jewish Sub 3316 A=0.1478 G=0.8522
gnomAD - Genomes East Asian Sub 3130 A=0.5125 G=0.4875
gnomAD - Genomes Other Sub 2144 A=0.1973 G=0.8027
8.3KJPN JAPANESE Study-wide 16760 A=0.61778 G=0.38222
1000Genomes Global Study-wide 5008 A=0.3183 G=0.6817
1000Genomes African Sub 1322 A=0.2602 G=0.7398
1000Genomes East Asian Sub 1008 A=0.5387 G=0.4613
1000Genomes Europe Sub 1006 A=0.1471 G=0.8529
1000Genomes South Asian Sub 978 A=0.356 G=0.644
1000Genomes American Sub 694 A=0.304 G=0.696
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1743 G=0.8257
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.1648 G=0.8352
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.1729 G=0.8271
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5785 G=0.4215
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.3191 G=0.6809
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.549 G=0.451
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.271 G=0.729
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.143 G=0.857
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.131 G=0.869
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.236 G=0.764
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.523 G=0.477
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.46 G=0.54
HapMap Global Study-wide 1888 A=0.3300 G=0.6700
HapMap American Sub 768 A=0.316 G=0.684
HapMap African Sub 690 A=0.272 G=0.728
HapMap Asian Sub 254 A=0.642 G=0.358
HapMap Europe Sub 176 A=0.165 G=0.835
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.150 G=0.850
CNV burdens in cranial meningiomas Global Study-wide 782 A=0.529 G=0.471
CNV burdens in cranial meningiomas CRM Sub 782 A=0.529 G=0.471
Northern Sweden ACPOP Study-wide 600 A=0.193 G=0.807
SGDP_PRJ Global Study-wide 476 A=0.218 G=0.782
Qatari Global Study-wide 216 A=0.139 G=0.861
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.472 G=0.528
Siberian Global Study-wide 48 A=0.25 G=0.75
The Danish reference pan genome Danish Study-wide 40 A=0.17 G=0.82
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 24 A=0.00 G=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 A= G
GRCh38.p13 chr 10 NC_000010.11:g.89913= NC_000010.11:g.89913A>G
GRCh37.p13 chr 10 NC_000010.10:g.135853= NC_000010.10:g.135853A>G
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.79913= NW_003571043.1:g.79913A>G
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#.

127 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12083709 Jul 11, 2003 (116)
2 SC_SNP ss15593692 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss17399951 Feb 27, 2004 (120)
4 SSAHASNP ss20686131 Apr 05, 2004 (121)
5 ILLUMINA ss66819718 Dec 02, 2006 (127)
6 ILLUMINA ss67846088 Dec 02, 2006 (127)
7 ILLUMINA ss68000751 Dec 02, 2006 (127)
8 PERLEGEN ss69066478 May 18, 2007 (127)
9 ILLUMINA ss70957579 May 23, 2008 (130)
10 ILLUMINA ss71565310 May 18, 2007 (127)
11 AFFY ss74840105 Aug 16, 2007 (128)
12 ILLUMINA ss75831145 Dec 07, 2007 (129)
13 AFFY ss76635906 Dec 07, 2007 (129)
14 ILLUMINA ss79274317 Dec 14, 2007 (130)
15 HGSV ss84272738 Dec 14, 2007 (130)
16 KRIBB_YJKIM ss84748179 Dec 14, 2007 (130)
17 BCMHGSC_JDW ss88057447 Mar 23, 2008 (129)
18 HUMANGENOME_JCVI ss97527219 Feb 04, 2009 (130)
19 BGI ss102844559 Dec 01, 2009 (131)
20 ENSEMBL ss107936011 Feb 04, 2009 (130)
21 1000GENOMES ss109145800 Jan 23, 2009 (130)
22 1000GENOMES ss115221599 Jan 25, 2009 (130)
23 ILLUMINA-UK ss118963269 Feb 15, 2009 (130)
24 ILLUMINA ss122860064 Dec 01, 2009 (131)
25 ENSEMBL ss138779216 Dec 01, 2009 (131)
26 ILLUMINA ss154455462 Dec 01, 2009 (131)
27 ILLUMINA ss159630112 Dec 01, 2009 (131)
28 ILLUMINA ss160927541 Dec 01, 2009 (131)
29 COMPLETE_GENOMICS ss167614020 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss168823587 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss170210116 Jul 04, 2010 (132)
32 ILLUMINA ss172366758 Jul 04, 2010 (132)
33 ILLUMINA ss174611613 Jul 04, 2010 (132)
34 BUSHMAN ss201023419 Jul 04, 2010 (132)
35 BCM-HGSC-SUB ss207027799 Jul 04, 2010 (132)
36 1000GENOMES ss224512396 Jul 14, 2010 (132)
37 1000GENOMES ss235012288 Jul 15, 2010 (132)
38 1000GENOMES ss241753238 Jul 15, 2010 (132)
39 BL ss253971594 May 09, 2011 (134)
40 GMI ss280440402 May 04, 2012 (137)
41 GMI ss286110764 Apr 25, 2013 (138)
42 PJP ss290815810 May 09, 2011 (134)
43 ILLUMINA ss481713430 May 04, 2012 (137)
44 ILLUMINA ss481744697 May 04, 2012 (137)
45 ILLUMINA ss482711379 Sep 11, 2015 (146)
46 ILLUMINA ss485651427 May 04, 2012 (137)
47 ILLUMINA ss537529256 Sep 11, 2015 (146)
48 TISHKOFF ss561707944 Apr 25, 2013 (138)
49 SSMP ss656208290 Apr 25, 2013 (138)
50 ILLUMINA ss778619220 Aug 21, 2014 (142)
51 ILLUMINA ss783271280 Aug 21, 2014 (142)
52 ILLUMINA ss784224481 Aug 21, 2014 (142)
53 ILLUMINA ss825604835 Apr 01, 2015 (144)
54 ILLUMINA ss832532314 Apr 09, 2015 (144)
55 ILLUMINA ss833141000 Aug 21, 2014 (142)
56 ILLUMINA ss833731828 Aug 21, 2014 (142)
57 ILLUMINA ss834076708 Aug 21, 2014 (142)
58 EVA-GONL ss987096799 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1076687427 Aug 21, 2014 (142)
60 1000GENOMES ss1335912991 Aug 21, 2014 (142)
61 DDI ss1426189113 Apr 09, 2015 (144)
62 EVA_GENOME_DK ss1574842110 Apr 09, 2015 (144)
63 EVA_DECODE ss1596744281 Apr 01, 2015 (144)
64 EVA_UK10K_ALSPAC ss1623797631 Apr 09, 2015 (144)
65 EVA_UK10K_TWINSUK ss1666791664 Apr 09, 2015 (144)
66 EVA_SVP ss1713149055 Apr 01, 2015 (144)
67 ILLUMINA ss1751957843 Sep 11, 2015 (146)
68 HAMMER_LAB ss1806212570 Sep 11, 2015 (146)
69 WEILL_CORNELL_DGM ss1930414783 Feb 17, 2016 (147)
70 ILLUMINA ss1959231577 Feb 17, 2016 (147)
71 GENOMED ss1967034978 Sep 28, 2016 (149)
72 JJLAB ss2025929583 Sep 28, 2016 (149)
73 USC_VALOUEV ss2154169643 Oct 12, 2018 (152)
74 HUMAN_LONGEVITY ss2171932860 Dec 20, 2016 (150)
75 SYSTEMSBIOZJU ss2627432632 Oct 12, 2018 (152)
76 ILLUMINA ss2632661395 Oct 12, 2018 (152)
77 ILLUMINA ss2635009579 Nov 08, 2017 (151)
78 GRF ss2698389042 Oct 12, 2018 (152)
79 GNOMAD ss2884519425 Oct 12, 2018 (152)
80 SWEGEN ss3005784458 Oct 12, 2018 (152)
81 ILLUMINA ss3021205019 Oct 12, 2018 (152)
82 BIOINF_KMB_FNS_UNIBA ss3026746718 Nov 08, 2017 (151)
83 TOPMED ss3109332843 Nov 08, 2017 (151)
84 CSHL ss3348911633 Oct 12, 2018 (152)
85 ILLUMINA ss3625571649 Oct 12, 2018 (152)
86 ILLUMINA ss3626364343 Oct 12, 2018 (152)
87 ILLUMINA ss3630689707 Oct 12, 2018 (152)
88 ILLUMINA ss3632934515 Oct 12, 2018 (152)
89 ILLUMINA ss3633630988 Oct 12, 2018 (152)
90 ILLUMINA ss3634385350 Oct 12, 2018 (152)
91 ILLUMINA ss3635323877 Oct 12, 2018 (152)
92 ILLUMINA ss3636064881 Oct 12, 2018 (152)
93 ILLUMINA ss3637074444 Oct 12, 2018 (152)
94 ILLUMINA ss3637828202 Oct 12, 2018 (152)
95 ILLUMINA ss3638929252 Oct 12, 2018 (152)
96 ILLUMINA ss3639463808 Oct 12, 2018 (152)
97 ILLUMINA ss3640092698 Oct 12, 2018 (152)
98 ILLUMINA ss3640995976 Oct 12, 2018 (152)
99 ILLUMINA ss3641290154 Oct 12, 2018 (152)
100 ILLUMINA ss3642833513 Oct 12, 2018 (152)
101 ILLUMINA ss3644526392 Oct 12, 2018 (152)
102 URBANLAB ss3649265510 Oct 12, 2018 (152)
103 ILLUMINA ss3651551870 Oct 12, 2018 (152)
104 EGCUT_WGS ss3673314812 Jul 13, 2019 (153)
105 EVA_DECODE ss3689095379 Jul 13, 2019 (153)
106 ILLUMINA ss3725127343 Jul 13, 2019 (153)
107 ACPOP ss3736974336 Jul 13, 2019 (153)
108 ILLUMINA ss3744686241 Jul 13, 2019 (153)
109 EVA ss3747627381 Jul 13, 2019 (153)
110 ILLUMINA ss3772186967 Jul 13, 2019 (153)
111 PACBIO ss3786553508 Jul 13, 2019 (153)
112 PACBIO ss3791748163 Jul 13, 2019 (153)
113 PACBIO ss3796629785 Jul 13, 2019 (153)
114 KHV_HUMAN_GENOMES ss3812993363 Jul 13, 2019 (153)
115 EVA ss3831916757 Apr 26, 2020 (154)
116 EVA ss3839487164 Apr 26, 2020 (154)
117 EVA ss3844952632 Apr 26, 2020 (154)
118 HGDP ss3847371752 Apr 26, 2020 (154)
119 SGDP_PRJ ss3873326495 Apr 26, 2020 (154)
120 KRGDB ss3921253530 Apr 26, 2020 (154)
121 EVA ss3984628066 Apr 26, 2021 (155)
122 EVA ss3985451431 Apr 26, 2021 (155)
123 EVA ss4017465206 Apr 26, 2021 (155)
124 GNOMAD ss4211411285 Apr 26, 2021 (155)
125 TOPMED ss4839524507 Apr 26, 2021 (155)
126 TOMMO_GENOMICS ss5195848189 Apr 26, 2021 (155)
127 EVA ss5237469541 Apr 26, 2021 (155)
128 1000Genomes NC_000010.10 - 135853 Oct 12, 2018 (152)
129 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 135853 Oct 12, 2018 (152)
130 Genetic variation in the Estonian population NC_000010.10 - 135853 Oct 12, 2018 (152)
131 The Danish reference pan genome NC_000010.10 - 135853 Apr 26, 2020 (154)
132 gnomAD - Genomes NC_000010.11 - 89913 Apr 26, 2021 (155)
133 Genome of the Netherlands Release 5 NC_000010.10 - 135853 Apr 26, 2020 (154)
134 HGDP-CEPH-db Supplement 1 NC_000010.9 - 125853 Apr 26, 2020 (154)
135 HapMap NC_000010.11 - 89913 Apr 26, 2020 (154)
136 KOREAN population from KRGDB NC_000010.10 - 135853 Apr 26, 2020 (154)
137 Northern Sweden NC_000010.10 - 135853 Jul 13, 2019 (153)
138 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 135853 Apr 26, 2021 (155)
139 CNV burdens in cranial meningiomas NC_000010.10 - 135853 Apr 26, 2021 (155)
140 Qatari NC_000010.10 - 135853 Apr 26, 2020 (154)
141 SGDP_PRJ NC_000010.10 - 135853 Apr 26, 2020 (154)
142 Siberian NC_000010.10 - 135853 Apr 26, 2020 (154)
143 8.3KJPN NC_000010.10 - 135853 Apr 26, 2021 (155)
144 TopMed NC_000010.11 - 89913 Apr 26, 2021 (155)
145 UK 10K study - Twins NC_000010.10 - 135853 Oct 12, 2018 (152)
146 A Vietnamese Genetic Variation Database NC_000010.10 - 135853 Jul 13, 2019 (153)
147 ALFA NC_000010.11 - 89913 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)
rs52836301 Sep 21, 2007 (128)
rs57608951 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84272738, ss3638929252, ss3639463808 NC_000010.8:125852:A:G NC_000010.11:89912:A:G (self)
49644, ss76635906, ss88057447, ss109145800, ss115221599, ss118963269, ss160927541, ss167614020, ss168823587, ss170210116, ss201023419, ss207027799, ss253971594, ss280440402, ss286110764, ss290815810, ss481713430, ss825604835, ss1596744281, ss1713149055, ss2635009579, ss3642833513, ss3847371752 NC_000010.9:125852:A:G NC_000010.11:89912:A:G (self)
48246701, 26806418, 19053060, 1988123, 11953926, 28430924, 10259201, 677358, 177521, 12456713, 25343475, 6685997, 53817496, 26806418, 5948680, ss224512396, ss235012288, ss241753238, ss481744697, ss482711379, ss485651427, ss537529256, ss561707944, ss656208290, ss778619220, ss783271280, ss784224481, ss832532314, ss833141000, ss833731828, ss834076708, ss987096799, ss1076687427, ss1335912991, ss1426189113, ss1574842110, ss1623797631, ss1666791664, ss1751957843, ss1806212570, ss1930414783, ss1959231577, ss1967034978, ss2025929583, ss2154169643, ss2627432632, ss2632661395, ss2698389042, ss2884519425, ss3005784458, ss3021205019, ss3348911633, ss3625571649, ss3626364343, ss3630689707, ss3632934515, ss3633630988, ss3634385350, ss3635323877, ss3636064881, ss3637074444, ss3637828202, ss3640092698, ss3640995976, ss3641290154, ss3644526392, ss3651551870, ss3673314812, ss3736974336, ss3744686241, ss3747627381, ss3772186967, ss3786553508, ss3791748163, ss3796629785, ss3831916757, ss3839487164, ss3873326495, ss3921253530, ss3984628066, ss3985451431, ss4017465206, ss5195848189, ss5237469541 NC_000010.10:135852:A:G NC_000010.11:89912:A:G (self)
340934472, 317112, 34602881, 55070162, 9739974394, ss2171932860, ss3026746718, ss3109332843, ss3649265510, ss3689095379, ss3725127343, ss3812993363, ss3844952632, ss4211411285, ss4839524507 NC_000010.11:89912:A:G NC_000010.11:89912:A:G (self)
ss66819718, ss67846088, ss68000751, ss69066478, ss70957579, ss71565310, ss74840105, ss75831145, ss79274317, ss84748179, ss97527219, ss102844559, ss107936011, ss122860064, ss138779216, ss154455462, ss159630112, ss172366758, ss174611613 NT_008705.16:75852:A:G NC_000010.11:89912:A:G (self)
ss12083709 NT_024115.14:75852:A:G NC_000010.11:89912:A:G (self)
ss15593692, ss17399951, ss20686131 NT_077567.3:75852:A:G NC_000010.11:89912:A:G (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 rs7906287

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