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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.

rs7770920

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:32476339 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.063106 (8824/139828, GnomAD)
A=0.06943 (1962/28258, 14KJPN)
A=0.07011 (1175/16760, 8.3KJPN) (+ 12 more)
A=0.04969 (830/16702, ALFA)
A=0.0795 (509/6404, 1000G_30x)
A=0.0839 (420/5008, 1000G)
A=0.0368 (142/3854, ALSPAC)
A=0.0413 (153/3708, TWINSUK)
A=0.1095 (320/2922, KOREAN)
A=0.066 (66/998, GoNL)
A=0.060 (13/216, Qatari)
T=0.50 (38/76, SGDP_PRJ)
A=0.50 (38/76, SGDP_PRJ)
T=0.5 (3/6, Siberian)
A=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
1 citation
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 16702 T=0.95031 A=0.04969
European Sub 12214 T=0.96594 A=0.03406
African Sub 2864 T=0.8883 A=0.1117
African Others Sub 108 T=0.898 A=0.102
African American Sub 2756 T=0.8879 A=0.1121
Asian Sub 108 T=0.898 A=0.102
East Asian Sub 84 T=0.90 A=0.10
Other Asian Sub 24 T=0.88 A=0.12
Latin American 1 Sub 146 T=0.932 A=0.068
Latin American 2 Sub 610 T=0.957 A=0.043
South Asian Sub 94 T=0.90 A=0.10
Other Sub 666 T=0.943 A=0.057


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
gnomAD - Genomes Global Study-wide 139828 T=0.936894 A=0.063106
gnomAD - Genomes European Sub 75834 T=0.95720 A=0.04280
gnomAD - Genomes African Sub 41804 T=0.89721 A=0.10279
gnomAD - Genomes American Sub 13632 T=0.95188 A=0.04812
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.9512 A=0.0488
gnomAD - Genomes East Asian Sub 3100 T=0.8916 A=0.1084
gnomAD - Genomes Other Sub 2140 T=0.9407 A=0.0593
14KJPN JAPANESE Study-wide 28258 T=0.93057 A=0.06943
8.3KJPN JAPANESE Study-wide 16760 T=0.92989 A=0.07011
Allele Frequency Aggregator Total Global 16702 T=0.95031 A=0.04969
Allele Frequency Aggregator European Sub 12214 T=0.96594 A=0.03406
Allele Frequency Aggregator African Sub 2864 T=0.8883 A=0.1117
Allele Frequency Aggregator Other Sub 666 T=0.943 A=0.057
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.957 A=0.043
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.932 A=0.068
Allele Frequency Aggregator Asian Sub 108 T=0.898 A=0.102
Allele Frequency Aggregator South Asian Sub 94 T=0.90 A=0.10
1000Genomes_30x Global Study-wide 6404 T=0.9205 A=0.0795
1000Genomes_30x African Sub 1786 T=0.8841 A=0.1159
1000Genomes_30x Europe Sub 1266 T=0.9629 A=0.0371
1000Genomes_30x South Asian Sub 1202 T=0.9285 A=0.0715
1000Genomes_30x East Asian Sub 1170 T=0.8897 A=0.1103
1000Genomes_30x American Sub 980 T=0.959 A=0.041
1000Genomes Global Study-wide 5008 T=0.9161 A=0.0839
1000Genomes African Sub 1322 T=0.8729 A=0.1271
1000Genomes East Asian Sub 1008 T=0.8839 A=0.1161
1000Genomes Europe Sub 1006 T=0.9612 A=0.0388
1000Genomes South Asian Sub 978 T=0.931 A=0.069
1000Genomes American Sub 694 T=0.958 A=0.042
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9632 A=0.0368
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9587 A=0.0413
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.8905 A=0.1095
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.934 A=0.066
Qatari Global Study-wide 216 T=0.940 A=0.060
SGDP_PRJ Global Study-wide 76 T=0.50 A=0.50
Siberian Global Study-wide 6 T=0.5 A=0.5
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.32476339T>A
GRCh37.p13 chr 6 NC_000006.11:g.32444116T>A
DR51 genomic region NG_002432.1:g.23607T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3914427T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3914533T>A
DR52 genomic region NG_002392.2:g.40638T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3699430T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3705026T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3716606T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3722191T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.3791600T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.3790898T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.3780570T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.3786190T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3817201T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3822786T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.3808583T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.3758499T>A
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
GRCh38.p14 chr 6 NC_000006.12:g.32476339= NC_000006.12:g.32476339T>A
GRCh37.p13 chr 6 NC_000006.11:g.32444116= NC_000006.11:g.32444116T>A
DR51 genomic region NG_002432.1:g.23607= NG_002432.1:g.23607T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.3914427= NT_113891.3:g.3914427T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.3914533= NT_113891.2:g.3914533T>A
DR52 genomic region NG_002392.2:g.40638= NG_002392.2:g.40638T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.3699430= NT_167248.2:g.3699430T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.3705026= NT_167248.1:g.3705026T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.3716606= NT_167245.2:g.3716606T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.3722191= NT_167245.1:g.3722191T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.3791600= NT_167249.2:g.3791600T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.3790898= NT_167249.1:g.3790898T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.3780570= NT_167246.2:g.3780570T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.3786190= NT_167246.1:g.3786190T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.3817201= NT_167247.2:g.3817201T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.3822786= NT_167247.1:g.3822786T>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.3808583= NT_167244.2:g.3808583T>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.3758499= NT_167244.1:g.3758499T>A
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#.

40 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11832050 Jul 11, 2003 (116)
2 SC_SNP ss13084606 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss20276327 Feb 27, 2004 (120)
4 ILLUMINA ss160913095 Dec 01, 2009 (137)
5 BUSHMAN ss201634955 Jul 04, 2010 (135)
6 GMI ss278731636 May 04, 2012 (137)
7 PJP ss293828010 May 09, 2011 (137)
8 1000GENOMES ss333188320 May 09, 2011 (137)
9 ILLUMINA ss482668158 Sep 08, 2015 (146)
10 TISHKOFF ss559118872 Apr 25, 2013 (138)
11 SSMP ss653041912 Apr 25, 2013 (138)
12 EVA-GONL ss982775190 Aug 21, 2014 (142)
13 1000GENOMES ss1319581514 Aug 21, 2014 (142)
14 EVA_DECODE ss1592318354 Apr 01, 2015 (144)
15 EVA_UK10K_ALSPAC ss1615290559 Apr 01, 2015 (144)
16 EVA_UK10K_TWINSUK ss1658284592 Apr 01, 2015 (144)
17 HAMMER_LAB ss1804361978 Sep 08, 2015 (146)
18 WEILL_CORNELL_DGM ss1926027410 Feb 12, 2016 (147)
19 USC_VALOUEV ss2151815595 Dec 20, 2016 (150)
20 SYSTEMSBIOZJU ss2626311943 Nov 08, 2017 (151)
21 GRF ss2707409878 Nov 08, 2017 (151)
22 GNOMAD ss2837493205 Nov 08, 2017 (151)
23 SWEGEN ss2998810568 Nov 08, 2017 (151)
24 ILLUMINA ss3636780674 Oct 12, 2018 (152)
25 EVA_DECODE ss3716923784 Jul 13, 2019 (153)
26 EVA ss3764832697 Jul 13, 2019 (153)
27 KHV_HUMAN_GENOMES ss3807987567 Jul 13, 2019 (153)
28 SGDP_PRJ ss3864270581 Apr 26, 2020 (154)
29 KRGDB ss3911048231 Apr 26, 2020 (154)
30 TOMMO_GENOMICS ss5176868169 Apr 26, 2021 (155)
31 1000G_HIGH_COVERAGE ss5267959004 Oct 17, 2022 (156)
32 EVA ss5364759194 Oct 17, 2022 (156)
33 EVA ss5508434138 Oct 17, 2022 (156)
34 1000G_HIGH_COVERAGE ss5553623123 Oct 17, 2022 (156)
35 SANFORD_IMAGENETICS ss5640104209 Oct 17, 2022 (156)
36 TOMMO_GENOMICS ss5714732640 Oct 17, 2022 (156)
37 YY_MCH ss5807317324 Oct 17, 2022 (156)
38 EVA ss5842038803 Oct 17, 2022 (156)
39 EVA ss5883266577 Oct 17, 2022 (156)
40 EVA ss5968605239 Oct 17, 2022 (156)
41 1000Genomes NC_000006.11 - 32444116 Oct 12, 2018 (152)
42 1000Genomes_30x NC_000006.12 - 32476339 Oct 17, 2022 (156)
43 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 32444116 Oct 12, 2018 (152)
44 gnomAD - Genomes NC_000006.12 - 32476339 Apr 26, 2021 (155)
45 Genome of the Netherlands Release 5 NC_000006.11 - 32444116 Apr 26, 2020 (154)
46 KOREAN population from KRGDB NC_000006.11 - 32444116 Apr 26, 2020 (154)
47 Qatari NC_000006.11 - 32444116 Apr 26, 2020 (154)
48 SGDP_PRJ NC_000006.11 - 32444116 Apr 26, 2020 (154)
49 Siberian NC_000006.11 - 32444116 Apr 26, 2020 (154)
50 8.3KJPN NC_000006.11 - 32444116 Apr 26, 2021 (155)
51 14KJPN NC_000006.12 - 32476339 Oct 17, 2022 (156)
52 UK 10K study - Twins NC_000006.11 - 32444116 Oct 12, 2018 (152)
53 ALFA NC_000006.12 - 32476339 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)
rs76578832 May 04, 2012 (137)
rs113493289 Sep 17, 2011 (135)
rs138921317 May 04, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss160913095, ss201634955, ss278731636, ss293828010, ss1592318354 NC_000006.10:32552093:T:A NC_000006.12:32476338:T:A (self)
31350019, 17481685, 7773491, 18225625, 8069340, 16287561, 4331949, 34837476, 17481685, ss333188320, ss482668158, ss559118872, ss653041912, ss982775190, ss1319581514, ss1615290559, ss1658284592, ss1804361978, ss1926027410, ss2151815595, ss2626311943, ss2707409878, ss2837493205, ss2998810568, ss3636780674, ss3764832697, ss3864270581, ss3911048231, ss5176868169, ss5364759194, ss5508434138, ss5640104209, ss5842038803, ss5968605239 NC_000006.11:32444115:T:A NC_000006.12:32476338:T:A (self)
41149058, 221379332, 48569744, 14731198730, ss3716923784, ss3807987567, ss5267959004, ss5553623123, ss5714732640, ss5807317324, ss5883266577 NC_000006.12:32476338:T:A NC_000006.12:32476338:T:A (self)
ss11832050, ss13084606, ss20276327 NT_007592.13:23265575:T:A NC_000006.12:32476338:T:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs7770920
PMID Title Author Year Journal
35991636 Genome-wide association study of hyperthyroidism based on electronic medical record from Taiwan. Liu TY et al. 2022 Frontiers in medicine
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