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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs9270808

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:32601830 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.240648 (63697/264690, TOPMED)
G=0.258371 (35833/138688, GnomAD)
G=0.23653 (6684/28258, 14KJPN) (+ 11 more)
G=0.23729 (3977/16760, 8.3KJPN)
G=0.25576 (3310/12942, ALFA)
G=0.2383 (1526/6404, 1000G_30x)
G=0.2392 (1198/5008, 1000G)
G=0.1782 (522/2930, KOREAN)
C=0.132 (132/998, GoNL)
G=0.253 (152/600, NorthernSweden)
G=0.162 (84/518, SGDP_PRJ)
G=0.241 (52/216, Qatari)
G=0.18 (10/56, Siberian)
G=0.28 (11/40, 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 12942 G=0.25576 A=0.00000, C=0.74424
European Sub 9082 G=0.2664 A=0.0000, C=0.7336
African Sub 2402 G=0.2381 A=0.0000, C=0.7619
African Others Sub 94 G=0.35 A=0.00, C=0.65
African American Sub 2308 G=0.2335 A=0.0000, C=0.7665
Asian Sub 112 G=0.259 A=0.000, C=0.741
East Asian Sub 86 G=0.22 A=0.00, C=0.78
Other Asian Sub 26 G=0.38 A=0.00, C=0.62
Latin American 1 Sub 146 G=0.226 A=0.000, C=0.774
Latin American 2 Sub 610 G=0.192 A=0.000, C=0.808
South Asian Sub 98 G=0.24 A=0.00, C=0.76
Other Sub 492 G=0.236 A=0.000, C=0.764


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 G=0.240648 C=0.759352
gnomAD - Genomes Global Study-wide 138688 G=0.258371 C=0.741629
gnomAD - Genomes European Sub 75218 G=0.28360 C=0.71640
gnomAD - Genomes African Sub 41452 G=0.23644 C=0.76356
gnomAD - Genomes American Sub 13472 G=0.21593 C=0.78407
gnomAD - Genomes Ashkenazi Jewish Sub 3308 G=0.2167 C=0.7833
gnomAD - Genomes East Asian Sub 3102 G=0.1886 C=0.8114
gnomAD - Genomes Other Sub 2136 G=0.2289 C=0.7711
14KJPN JAPANESE Study-wide 28258 G=0.23653 C=0.76347
8.3KJPN JAPANESE Study-wide 16760 G=0.23729 C=0.76271
Allele Frequency Aggregator Total Global 12942 G=0.25576 A=0.00000, C=0.74424
Allele Frequency Aggregator European Sub 9082 G=0.2664 A=0.0000, C=0.7336
Allele Frequency Aggregator African Sub 2402 G=0.2381 A=0.0000, C=0.7619
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.192 A=0.000, C=0.808
Allele Frequency Aggregator Other Sub 492 G=0.236 A=0.000, C=0.764
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.226 A=0.000, C=0.774
Allele Frequency Aggregator Asian Sub 112 G=0.259 A=0.000, C=0.741
Allele Frequency Aggregator South Asian Sub 98 G=0.24 A=0.00, C=0.76
1000Genomes_30x Global Study-wide 6404 G=0.2383 C=0.7617
1000Genomes_30x African Sub 1786 G=0.1982 C=0.8018
1000Genomes_30x Europe Sub 1266 G=0.2741 C=0.7259
1000Genomes_30x South Asian Sub 1202 G=0.2937 C=0.7063
1000Genomes_30x East Asian Sub 1170 G=0.2308 C=0.7692
1000Genomes_30x American Sub 980 G=0.206 C=0.794
1000Genomes Global Study-wide 5008 G=0.2392 C=0.7608
1000Genomes African Sub 1322 G=0.2012 C=0.7988
1000Genomes East Asian Sub 1008 G=0.2351 C=0.7649
1000Genomes Europe Sub 1006 G=0.2654 C=0.7346
1000Genomes South Asian Sub 978 G=0.292 C=0.708
1000Genomes American Sub 694 G=0.205 C=0.795
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1782 C=0.8218, T=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.868 C=0.132
Northern Sweden ACPOP Study-wide 600 G=0.253 C=0.747
SGDP_PRJ Global Study-wide 518 G=0.162 C=0.838
Qatari Global Study-wide 216 G=0.241 C=0.759
Siberian Global Study-wide 56 G=0.18 C=0.82
The Danish reference pan genome Danish Study-wide 40 G=0.28 C=0.72
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.32601830G>A
GRCh38.p14 chr 6 NC_000006.12:g.32601830G>C
GRCh38.p14 chr 6 NC_000006.12:g.32601830G>T
GRCh37.p13 chr 6 NC_000006.11:g.32569607G>A
GRCh37.p13 chr 6 NC_000006.11:g.32569607G>C
GRCh37.p13 chr 6 NC_000006.11:g.32569607G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4020486C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4020486C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4020486C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4020592C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4020592C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4020592C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3801455C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3801455C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3801455C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3807051C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3807051C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3807051C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3840498C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3840498C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3840498C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3846083C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3846083C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3846083C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4004203C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4004203C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4004203C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4003501C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4003501C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4003501C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4014896C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4014896C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4014896C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4020516C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4020516C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4020516C>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
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 G= A C T
GRCh38.p14 chr 6 NC_000006.12:g.32601830= NC_000006.12:g.32601830G>A NC_000006.12:g.32601830G>C NC_000006.12:g.32601830G>T
GRCh37.p13 chr 6 NC_000006.11:g.32569607= NC_000006.11:g.32569607G>A NC_000006.11:g.32569607G>C NC_000006.11:g.32569607G>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.4020486C>G NT_113891.3:g.4020486C>A NT_113891.3:g.4020486= NT_113891.3:g.4020486C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.4020592C>G NT_113891.2:g.4020592C>A NT_113891.2:g.4020592= NT_113891.2:g.4020592C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3801455C>G NT_167248.2:g.3801455C>A NT_167248.2:g.3801455= NT_167248.2:g.3801455C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3807051C>G NT_167248.1:g.3807051C>A NT_167248.1:g.3807051= NT_167248.1:g.3807051C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3840498C>G NT_167245.2:g.3840498C>A NT_167245.2:g.3840498= NT_167245.2:g.3840498C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3846083C>G NT_167245.1:g.3846083C>A NT_167245.1:g.3846083= NT_167245.1:g.3846083C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.4004203C>G NT_167249.2:g.4004203C>A NT_167249.2:g.4004203= NT_167249.2:g.4004203C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.4003501C>G NT_167249.1:g.4003501C>A NT_167249.1:g.4003501= NT_167249.1:g.4003501C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.4014896C>G NT_167246.2:g.4014896C>A NT_167246.2:g.4014896= NT_167246.2:g.4014896C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.4020516C>G NT_167246.1:g.4020516C>A NT_167246.1:g.4020516= NT_167246.1:g.4020516C>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#.

52 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 SI_MHC_SNP ss12695768 Oct 31, 2003 (118)
2 1000GENOMES ss109914106 Feb 13, 2009 (130)
3 ILLUMINA-UK ss116400115 Dec 01, 2009 (131)
4 GMI ss156761426 Dec 01, 2009 (137)
5 1000GENOMES ss222312818 Jul 14, 2010 (132)
6 1000GENOMES ss233409952 Jul 14, 2010 (132)
7 1000GENOMES ss240477839 Jul 15, 2010 (132)
8 GMI ss278736840 May 04, 2012 (137)
9 GMI ss285378394 Apr 25, 2013 (138)
10 PJP ss293829354 May 09, 2011 (134)
11 SSMP ss653047314 Apr 25, 2013 (138)
12 EVA-GONL ss982780501 Aug 21, 2014 (142)
13 1000GENOMES ss1319589481 Aug 21, 2014 (142)
14 EVA_GENOME_DK ss1581611994 Apr 01, 2015 (144)
15 WEILL_CORNELL_DGM ss1926036735 Feb 12, 2016 (147)
16 GENOMED ss1970361723 Jul 19, 2016 (147)
17 JJLAB ss2023651117 Sep 14, 2016 (149)
18 USC_VALOUEV ss2151825535 Dec 20, 2016 (150)
19 GRF ss2707419711 Nov 08, 2017 (151)
20 SWEGEN ss2998831108 Nov 08, 2017 (151)
21 URBANLAB ss3648316565 Oct 12, 2018 (152)
22 EVA_DECODE ss3716931274 Jul 13, 2019 (153)
23 ACPOP ss3733374295 Jul 13, 2019 (153)
24 EVA ss3764840154 Jul 13, 2019 (153)
25 PACBIO ss3785433082 Jul 13, 2019 (153)
26 PACBIO ss3790791296 Jul 13, 2019 (153)
27 PACBIO ss3795669533 Jul 13, 2019 (153)
28 KHV_HUMAN_GENOMES ss3807994900 Jul 13, 2019 (153)
29 EVA ss3829843819 Apr 26, 2020 (154)
30 EVA ss3838399056 Apr 26, 2020 (154)
31 EVA ss3843841948 Apr 26, 2020 (154)
32 SGDP_PRJ ss3864292621 Apr 26, 2020 (154)
33 KRGDB ss3911070615 Apr 26, 2020 (154)
34 VINODS ss4025192693 Apr 26, 2021 (155)
35 VINODS ss4025211974 Apr 26, 2021 (155)
36 VINODS ss4025232774 Apr 26, 2021 (155)
37 VINODS ss4025270534 Apr 26, 2021 (155)
38 VINODS ss4025291203 Apr 26, 2021 (155)
39 GNOMAD ss4139485051 Apr 26, 2021 (155)
40 TOPMED ss4698571493 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5176898643 Apr 26, 2021 (155)
42 1000G_HIGH_COVERAGE ss5267966120 Oct 17, 2022 (156)
43 EVA ss5364771473 Oct 17, 2022 (156)
44 HUGCELL_USP ss5465691113 Oct 17, 2022 (156)
45 EVA ss5508434716 Oct 17, 2022 (156)
46 1000G_HIGH_COVERAGE ss5553638823 Oct 17, 2022 (156)
47 SANFORD_IMAGENETICS ss5640121552 Oct 17, 2022 (156)
48 TOMMO_GENOMICS ss5714767530 Oct 17, 2022 (156)
49 YY_MCH ss5807335237 Oct 17, 2022 (156)
50 EVA ss5842044597 Oct 17, 2022 (156)
51 EVA ss5883269514 Oct 17, 2022 (156)
52 EVA ss5968613152 Oct 17, 2022 (156)
53 1000Genomes NC_000006.11 - 32569607 Oct 12, 2018 (152)
54 1000Genomes_30x NC_000006.12 - 32601830 Oct 17, 2022 (156)
55 The Danish reference pan genome NC_000006.11 - 32569607 Apr 26, 2020 (154)
56 gnomAD - Genomes NC_000006.12 - 32601830 Apr 26, 2021 (155)
57 Genome of the Netherlands Release 5 NC_000006.11 - 32569607 Apr 26, 2020 (154)
58 KOREAN population from KRGDB NC_000006.11 - 32569607 Apr 26, 2020 (154)
59 Northern Sweden NC_000006.11 - 32569607 Jul 13, 2019 (153)
60 Qatari NC_000006.11 - 32569607 Apr 26, 2020 (154)
61 SGDP_PRJ NC_000006.11 - 32569607 Apr 26, 2020 (154)
62 Siberian NC_000006.11 - 32569607 Apr 26, 2020 (154)
63 8.3KJPN NC_000006.11 - 32569607 Apr 26, 2021 (155)
64 14KJPN NC_000006.12 - 32601830 Oct 17, 2022 (156)
65 TopMed NC_000006.12 - 32601830 Apr 26, 2021 (155)
66 ALFA NC_000006.12 - 32601830 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)
rs74291223 May 04, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2265471653 NC_000006.12:32601829:G:A NC_000006.12:32601829:G:A (self)
ss109914106, ss116400115, ss278736840, ss285378394, ss293829354 NC_000006.10:32677584:G:C NC_000006.12:32601829:G:C (self)
31358112, 7776933, 7775797, 18248009, 6659160, 8078665, 16309601, 4341889, 34867950, ss222312818, ss233409952, ss240477839, ss653047314, ss982780501, ss1319589481, ss1581611994, ss1926036735, ss1970361723, ss2023651117, ss2151825535, ss2707419711, ss2998831108, ss3733374295, ss3764840154, ss3785433082, ss3790791296, ss3795669533, ss3829843819, ss3838399056, ss3864292621, ss3911070615, ss5176898643, ss5364771473, ss5508434716, ss5640121552, ss5842044597, ss5968613152 NC_000006.11:32569606:G:C NC_000006.12:32601829:G:C (self)
41164758, 221409645, 48604634, 535949051, 2265471653, ss3648316565, ss3716931274, ss3807994900, ss3843841948, ss4139485051, ss4698571493, ss5267966120, ss5465691113, ss5553638823, ss5714767530, ss5807335237, ss5883269514 NC_000006.12:32601829:G:C NC_000006.12:32601829:G:C (self)
ss12695768, ss156761426 NT_007592.15:32509606:G:C NC_000006.12:32601829:G:C (self)
ss4025192693 NT_113891.3:4020485:C:C NC_000006.12:32601829:G:C (self)
ss4025211974 NT_167245.2:3840497:C:C NC_000006.12:32601829:G:C (self)
ss4025232774 NT_167246.2:4014895:C:C NC_000006.12:32601829:G:C (self)
ss4025270534 NT_167248.2:3801454:C:C NC_000006.12:32601829:G:C (self)
ss4025291203 NT_167249.2:4004202:C:C NC_000006.12:32601829:G:C (self)
18248009, ss3911070615 NC_000006.11:32569606:G:T NC_000006.12:32601829:G: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 rs9270808

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.post774+babeb33