Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs9276013

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:32726947 (GRCh38.p14) 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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.265597 (70301/264690, TOPMED)
T=0.269458 (37653/139736, GnomAD)
T=0.18221 (5149/28258, 14KJPN) (+ 12 more)
T=0.25221 (4671/18520, ALFA)
T=0.18067 (3028/16760, 8.3KJPN)
T=0.2241 (1435/6404, 1000G_30x)
T=0.2210 (1107/5008, 1000G)
T=0.2223 (996/4480, Estonian)
T=0.1689 (495/2930, KOREAN)
T=0.279 (278/998, GoNL)
T=0.265 (159/600, NorthernSweden)
T=0.131 (70/536, SGDP_PRJ)
T=0.334 (109/326, HapMap)
T=0.208 (45/216, Qatari)
T=0.19 (10/54, Siberian)
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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 18520 T=0.25221 A=0.74779
European Sub 14152 T=0.23488 A=0.76512
African Sub 2898 T=0.3613 A=0.6387
African Others Sub 114 T=0.412 A=0.588
African American Sub 2784 T=0.3592 A=0.6408
Asian Sub 112 T=0.089 A=0.911
East Asian Sub 86 T=0.08 A=0.92
Other Asian Sub 26 T=0.12 A=0.88
Latin American 1 Sub 146 T=0.240 A=0.760
Latin American 2 Sub 610 T=0.185 A=0.815
South Asian Sub 98 T=0.08 A=0.92
Other Sub 504 T=0.266 A=0.734


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=0.265597 A=0.734403
gnomAD - Genomes Global Study-wide 139736 T=0.269458 A=0.730542
gnomAD - Genomes European Sub 75712 T=0.23873 A=0.76127
gnomAD - Genomes African Sub 41832 T=0.36238 A=0.63762
gnomAD - Genomes American Sub 13632 T=0.21640 A=0.78360
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.1877 A=0.8123
gnomAD - Genomes East Asian Sub 3098 T=0.1146 A=0.8854
gnomAD - Genomes Other Sub 2142 T=0.2292 A=0.7708
14KJPN JAPANESE Study-wide 28258 T=0.18221 A=0.81779
Allele Frequency Aggregator Total Global 18520 T=0.25221 A=0.74779
Allele Frequency Aggregator European Sub 14152 T=0.23488 A=0.76512
Allele Frequency Aggregator African Sub 2898 T=0.3613 A=0.6387
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.185 A=0.815
Allele Frequency Aggregator Other Sub 504 T=0.266 A=0.734
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.240 A=0.760
Allele Frequency Aggregator Asian Sub 112 T=0.089 A=0.911
Allele Frequency Aggregator South Asian Sub 98 T=0.08 A=0.92
8.3KJPN JAPANESE Study-wide 16760 T=0.18067 A=0.81933
1000Genomes_30x Global Study-wide 6404 T=0.2241 A=0.7759
1000Genomes_30x African Sub 1786 T=0.3695 A=0.6305
1000Genomes_30x Europe Sub 1266 T=0.2243 A=0.7757
1000Genomes_30x South Asian Sub 1202 T=0.1032 A=0.8968
1000Genomes_30x East Asian Sub 1170 T=0.1222 A=0.8778
1000Genomes_30x American Sub 980 T=0.229 A=0.771
1000Genomes Global Study-wide 5008 T=0.2210 A=0.7790
1000Genomes African Sub 1322 T=0.3699 A=0.6301
1000Genomes East Asian Sub 1008 T=0.1310 A=0.8690
1000Genomes Europe Sub 1006 T=0.2177 A=0.7823
1000Genomes South Asian Sub 978 T=0.109 A=0.891
1000Genomes American Sub 694 T=0.231 A=0.769
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.2223 A=0.7777
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.1689 A=0.8311, G=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.279 A=0.721
Northern Sweden ACPOP Study-wide 600 T=0.265 A=0.735
SGDP_PRJ Global Study-wide 536 T=0.131 A=0.869
HapMap Global Study-wide 326 T=0.334 A=0.666
HapMap African Sub 120 T=0.425 A=0.575
HapMap American Sub 118 T=0.364 A=0.636
HapMap Asian Sub 88 T=0.17 A=0.83
Qatari Global Study-wide 216 T=0.208 A=0.792
Siberian Global Study-wide 54 T=0.19 A=0.81
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.p14 chr 6 NC_000006.12:g.32726947T>A
GRCh38.p14 chr 6 NC_000006.12:g.32726947T>G
GRCh37.p13 chr 6 NC_000006.11:g.32694724T>A
GRCh37.p13 chr 6 NC_000006.11:g.32694724T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4140218A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4140218A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4140324A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4140324A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3921205A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3921205A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3926801A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3926801A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3971710A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3971710A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3977295A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3977295A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4127094T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4127094T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4126392T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4126392T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4146256A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4146256A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4151876A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4151876A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.4026329A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.4026329A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.4031914A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.4031914A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.4032784A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.4032784A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.3982700A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.3982700A>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
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 G
GRCh38.p14 chr 6 NC_000006.12:g.32726947= NC_000006.12:g.32726947T>A NC_000006.12:g.32726947T>G
GRCh37.p13 chr 6 NC_000006.11:g.32694724= NC_000006.11:g.32694724T>A NC_000006.11:g.32694724T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4140218A>T NT_113891.3:g.4140218= NT_113891.3:g.4140218A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4140324A>T NT_113891.2:g.4140324= NT_113891.2:g.4140324A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3921205A>T NT_167248.2:g.3921205= NT_167248.2:g.3921205A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3926801A>T NT_167248.1:g.3926801= NT_167248.1:g.3926801A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3971710A>T NT_167245.2:g.3971710= NT_167245.2:g.3971710A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3977295A>T NT_167245.1:g.3977295= NT_167245.1:g.3977295A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4127094= NT_167249.2:g.4127094T>A NT_167249.2:g.4127094T>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4126392= NT_167249.1:g.4126392T>A NT_167249.1:g.4126392T>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4146256A>T NT_167246.2:g.4146256= NT_167246.2:g.4146256A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4151876A>T NT_167246.1:g.4151876= NT_167246.1:g.4151876A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.4026329A>T NT_167247.2:g.4026329= NT_167247.2:g.4026329A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.4031914A>T NT_167247.1:g.4031914= NT_167247.1:g.4031914A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.4032784A>T NT_167244.2:g.4032784= NT_167244.2:g.4032784A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.3982700A>T NT_167244.1:g.3982700= NT_167244.1:g.3982700A>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#.

58 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 SI_MHC_SNP ss12701129 Oct 31, 2003 (118)
2 FHCRC ss23139500 Sep 20, 2004 (130)
3 BCMHGSC_JDW ss93438937 Mar 24, 2008 (129)
4 HUMANGENOME_JCVI ss98384071 Feb 06, 2009 (130)
5 BGI ss105991713 Feb 20, 2009 (130)
6 1000GENOMES ss109921446 Feb 13, 2009 (137)
7 ILLUMINA-UK ss116404709 Feb 14, 2009 (130)
8 GMI ss156768932 Dec 01, 2009 (137)
9 COMPLETE_GENOMICS ss162217981 Jul 04, 2010 (137)
10 BUSHMAN ss201650632 Jul 04, 2010 (137)
11 BCM-HGSC-SUB ss207554499 Jul 04, 2010 (137)
12 1000GENOMES ss211819336 Jul 14, 2010 (137)
13 1000GENOMES ss222319135 Jul 14, 2010 (137)
14 1000GENOMES ss233416505 Jul 14, 2010 (137)
15 1000GENOMES ss240483413 Jul 15, 2010 (137)
16 BL ss254214641 May 09, 2011 (137)
17 GMI ss278742097 May 04, 2012 (137)
18 GMI ss285381223 Apr 25, 2013 (138)
19 PJP ss293831513 May 09, 2011 (137)
20 SSMP ss653052828 Apr 25, 2013 (138)
21 EVA-GONL ss982786918 Aug 21, 2014 (142)
22 1000GENOMES ss1319599030 Aug 21, 2014 (142)
23 HAMMER_LAB ss1804367961 Sep 08, 2015 (146)
24 WEILL_CORNELL_DGM ss1926044773 Feb 12, 2016 (147)
25 GENOMED ss1970364620 Jul 19, 2016 (147)
26 JJLAB ss2023657502 Sep 14, 2016 (149)
27 USC_VALOUEV ss2151833297 Dec 20, 2016 (150)
28 SYSTEMSBIOZJU ss2626316619 Nov 08, 2017 (151)
29 GRF ss2707428153 Nov 08, 2017 (151)
30 SWEGEN ss2998842093 Nov 08, 2017 (151)
31 BIOINF_KMB_FNS_UNIBA ss3025620045 Nov 08, 2017 (151)
32 URBANLAB ss3648322473 Oct 12, 2018 (152)
33 EGCUT_WGS ss3666729271 Jul 13, 2019 (153)
34 EVA_DECODE ss3716940325 Jul 13, 2019 (153)
35 ACPOP ss3733382496 Jul 13, 2019 (153)
36 EVA ss3764847234 Jul 13, 2019 (153)
37 KHV_HUMAN_GENOMES ss3808003562 Jul 13, 2019 (153)
38 EVA ss3829851287 Apr 26, 2020 (154)
39 EVA ss3838403329 Apr 26, 2020 (154)
40 EVA ss3843847312 Apr 26, 2020 (154)
41 SGDP_PRJ ss3864303295 Apr 26, 2020 (154)
42 KRGDB ss3911081318 Apr 26, 2020 (154)
43 VINODS ss4025173216 Apr 26, 2021 (155)
44 VINODS ss4025195876 Apr 26, 2021 (155)
45 TOPMED ss4698589695 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5176912646 Apr 26, 2021 (155)
47 1000G_HIGH_COVERAGE ss5267974336 Oct 13, 2022 (156)
48 EVA ss5364779696 Oct 13, 2022 (156)
49 HUGCELL_USP ss5465695405 Oct 13, 2022 (156)
50 EVA ss5508438411 Oct 13, 2022 (156)
51 1000G_HIGH_COVERAGE ss5553649640 Oct 13, 2022 (156)
52 SANFORD_IMAGENETICS ss5640131909 Oct 13, 2022 (156)
53 TOMMO_GENOMICS ss5714783130 Oct 13, 2022 (156)
54 YY_MCH ss5807344977 Oct 13, 2022 (156)
55 EVA ss5842051149 Oct 13, 2022 (156)
56 EVA ss5855296502 Oct 13, 2022 (156)
57 EVA ss5883279274 Oct 13, 2022 (156)
58 EVA ss5968620978 Oct 13, 2022 (156)
59 1000Genomes NC_000006.11 - 32694724 Oct 12, 2018 (152)
60 1000Genomes_30x NC_000006.12 - 32726947 Oct 13, 2022 (156)
61 Genetic variation in the Estonian population NC_000006.11 - 32694724 Oct 12, 2018 (152)
62 gnomAD - Genomes NC_000006.12 - 32726947 Apr 26, 2021 (155)
63 Genome of the Netherlands Release 5 NC_000006.11 - 32694724 Apr 26, 2020 (154)
64 HapMap NC_000006.12 - 32726947 Apr 26, 2020 (154)
65 KOREAN population from KRGDB NC_000006.11 - 32694724 Apr 26, 2020 (154)
66 Northern Sweden NC_000006.11 - 32694724 Jul 13, 2019 (153)
67 Qatari NC_000006.11 - 32694724 Apr 26, 2020 (154)
68 SGDP_PRJ NC_000006.11 - 32694724 Apr 26, 2020 (154)
69 Siberian NC_000006.11 - 32694724 Apr 26, 2020 (154)
70 8.3KJPN NC_000006.11 - 32694724 Apr 26, 2021 (155)
71 14KJPN NC_000006.12 - 32726947 Oct 13, 2022 (156)
72 TopMed NC_000006.12 - 32726947 Apr 26, 2021 (155)
73 ALFA NC_000006.12 - 32726947 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)
rs17213035 May 27, 2008 (130)
rs75029370 May 04, 2012 (137)
rs113882154 May 04, 2012 (137)
rs115978476 May 04, 2012 (137)
rs117121882 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss12701129, ss23139500, ss93438937, ss109921446, ss116404709, ss162217981, ss201650632, ss207554499, ss211819336, ss254214641, ss278742097, ss285381223, ss293831513 NC_000006.10:32802701:T:A NC_000006.12:32726946:T:A (self)
31367845, 12467519, 7781329, 18258712, 6667361, 8086703, 16320275, 4349651, 34881953, ss222319135, ss233416505, ss240483413, ss653052828, ss982786918, ss1319599030, ss1804367961, ss1926044773, ss1970364620, ss2023657502, ss2151833297, ss2626316619, ss2707428153, ss2998842093, ss3666729271, ss3733382496, ss3764847234, ss3829851287, ss3838403329, ss3864303295, ss3911081318, ss5176912646, ss5364779696, ss5508438411, ss5640131909, ss5842051149, ss5968620978 NC_000006.11:32694723:T:A NC_000006.12:32726946:T:A (self)
41175575, 221437427, 3102999, 48620234, 535967253, 4663844364, ss3025620045, ss3648322473, ss3716940325, ss3808003562, ss3843847312, ss4698589695, ss5267974336, ss5465695405, ss5553649640, ss5714783130, ss5807344977, ss5855296502, ss5883279274 NC_000006.12:32726946:T:A NC_000006.12:32726946:T:A (self)
ss98384071, ss105991713, ss156768932 NT_007592.15:32634723:T:A NC_000006.12:32726946:T:A (self)
ss4025195876 NT_113891.3:4140217:A:A NC_000006.12:32726946:T:A (self)
ss4025173216 NT_167244.2:4032783:A:A NC_000006.12:32726946:T:A (self)
18258712, ss3911081318 NC_000006.11:32694723:T:G NC_000006.12:32726946:T: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 rs9276013

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.post761+d5e8e07