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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.

rs8180582

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:69670563 (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
A=0.331595 (87770/264690, TOPMED)
G=0.45591 (12883/28258, 14KJPN)
G=0.45949 (7701/16760, 8.3KJPN) (+ 16 more)
A=0.23462 (2875/12254, ALFA)
A=0.3757 (2406/6404, 1000G_30x)
A=0.3854 (1930/5008, 1000G)
A=0.4217 (1889/4480, Estonian)
A=0.3988 (1537/3854, ALSPAC)
A=0.3940 (1461/3708, TWINSUK)
G=0.4734 (1387/2930, KOREAN)
G=0.4831 (885/1832, Korea1K)
A=0.367 (366/998, GoNL)
A=0.373 (224/600, NorthernSweden)
G=0.329 (121/368, SGDP_PRJ)
A=0.344 (110/320, HapMap)
A=0.491 (106/216, Qatari)
G=0.407 (87/214, Vietnamese)
A=0.45 (18/40, GENOME_DK)
G=0.31 (11/36, 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 12254 G=0.76538 A=0.23462, C=0.00000, T=0.00000
European Sub 9396 G=0.7065 A=0.2935, C=0.0000, T=0.0000
African Sub 2090 G=0.9890 A=0.0110, C=0.0000, T=0.0000
African Others Sub 86 G=1.00 A=0.00, C=0.00, T=0.00
African American Sub 2004 G=0.9885 A=0.0115, C=0.0000, T=0.0000
Asian Sub 24 G=0.88 A=0.12, C=0.00, T=0.00
East Asian Sub 16 G=0.88 A=0.12, C=0.00, T=0.00
Other Asian Sub 8 G=0.9 A=0.1, C=0.0, T=0.0
Latin American 1 Sub 50 G=1.00 A=0.00, C=0.00, T=0.00
Latin American 2 Sub 224 G=1.000 A=0.000, C=0.000, T=0.000
South Asian Sub 26 G=0.96 A=0.04, C=0.00, T=0.00
Other Sub 444 G=0.797 A=0.203, C=0.000, T=0.000


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=0.668405 A=0.331595
14KJPN JAPANESE Study-wide 28258 G=0.45591 A=0.54409
8.3KJPN JAPANESE Study-wide 16760 G=0.45949 A=0.54051
Allele Frequency Aggregator Total Global 12254 G=0.76538 A=0.23462, C=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9396 G=0.7065 A=0.2935, C=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2090 G=0.9890 A=0.0110, C=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 444 G=0.797 A=0.203, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 224 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 50 G=1.00 A=0.00, C=0.00, T=0.00
Allele Frequency Aggregator South Asian Sub 26 G=0.96 A=0.04, C=0.00, T=0.00
Allele Frequency Aggregator Asian Sub 24 G=0.88 A=0.12, C=0.00, T=0.00
1000Genomes_30x Global Study-wide 6404 G=0.6243 A=0.3757
1000Genomes_30x African Sub 1786 G=0.8824 A=0.1176
1000Genomes_30x Europe Sub 1266 G=0.5782 A=0.4218
1000Genomes_30x South Asian Sub 1202 G=0.5208 A=0.4792
1000Genomes_30x East Asian Sub 1170 G=0.4350 A=0.5650
1000Genomes_30x American Sub 980 G=0.566 A=0.434
1000Genomes Global Study-wide 5008 G=0.6146 A=0.3854
1000Genomes African Sub 1322 G=0.8805 A=0.1195
1000Genomes East Asian Sub 1008 G=0.4355 A=0.5645
1000Genomes Europe Sub 1006 G=0.5666 A=0.4334
1000Genomes South Asian Sub 978 G=0.525 A=0.475
1000Genomes American Sub 694 G=0.565 A=0.435
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.5783 A=0.4217
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6012 A=0.3988
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6060 A=0.3940
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.4734 A=0.5266, C=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.4831 A=0.5169
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.633 A=0.367
Northern Sweden ACPOP Study-wide 600 G=0.627 A=0.373
SGDP_PRJ Global Study-wide 368 G=0.329 A=0.671
HapMap Global Study-wide 320 G=0.656 A=0.344
HapMap African Sub 120 G=0.867 A=0.133
HapMap American Sub 114 G=0.623 A=0.377
HapMap Asian Sub 86 G=0.41 A=0.59
Qatari Global Study-wide 216 G=0.509 A=0.491
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.407 A=0.593
The Danish reference pan genome Danish Study-wide 40 G=0.55 A=0.45
Siberian Global Study-wide 36 G=0.31 A=0.69
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.69670563G>A
GRCh38.p14 chr 6 NC_000006.12:g.69670563G>C
GRCh38.p14 chr 6 NC_000006.12:g.69670563G>T
GRCh37.p13 chr 6 NC_000006.11:g.70380455G>A
GRCh37.p13 chr 6 NC_000006.11:g.70380455G>C
GRCh37.p13 chr 6 NC_000006.11:g.70380455G>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.69670563= NC_000006.12:g.69670563G>A NC_000006.12:g.69670563G>C NC_000006.12:g.69670563G>T
GRCh37.p13 chr 6 NC_000006.11:g.70380455= NC_000006.11:g.70380455G>A NC_000006.11:g.70380455G>C NC_000006.11:g.70380455G>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#.

67 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss12570468 Aug 27, 2003 (117)
2 SC_SNP ss12789392 Dec 05, 2003 (119)
3 ABI ss44744196 Mar 14, 2006 (126)
4 HGSV ss77444736 Dec 07, 2007 (129)
5 HGSV ss78315086 Dec 07, 2007 (129)
6 HGSV ss85428422 Dec 15, 2007 (130)
7 HUMANGENOME_JCVI ss98507568 Feb 05, 2009 (130)
8 1000GENOMES ss110302077 Jan 24, 2009 (130)
9 ENSEMBL ss143048438 Dec 01, 2009 (131)
10 GMI ss157114297 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss166849421 Jul 04, 2010 (132)
12 BUSHMAN ss201986908 Jul 04, 2010 (132)
13 1000GENOMES ss222457275 Jul 14, 2010 (132)
14 1000GENOMES ss233523649 Jul 15, 2010 (132)
15 1000GENOMES ss240569341 Jul 15, 2010 (132)
16 BL ss254437686 May 09, 2011 (134)
17 GMI ss278855996 May 04, 2012 (137)
18 GMI ss285434021 Apr 25, 2013 (138)
19 PJP ss293630568 May 09, 2011 (134)
20 TISHKOFF ss559276513 Apr 25, 2013 (138)
21 SSMP ss653231967 Apr 25, 2013 (138)
22 EVA-GONL ss983064415 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1073710223 Aug 21, 2014 (142)
24 1000GENOMES ss1320628644 Aug 21, 2014 (142)
25 DDI ss1430772532 Apr 01, 2015 (144)
26 EVA_GENOME_DK ss1581726946 Apr 01, 2015 (144)
27 EVA_DECODE ss1592605513 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1615824973 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1658819006 Apr 01, 2015 (144)
30 HAMMER_LAB ss1804490695 Sep 08, 2015 (146)
31 WEILL_CORNELL_DGM ss1926321353 Feb 12, 2016 (147)
32 GENOMED ss1970428130 Jul 19, 2016 (147)
33 JJLAB ss2023802241 Sep 14, 2016 (149)
34 USC_VALOUEV ss2151994172 Dec 20, 2016 (150)
35 HUMAN_LONGEVITY ss2284913330 Dec 20, 2016 (150)
36 SYSTEMSBIOZJU ss2626395932 Nov 08, 2017 (151)
37 GRF ss2707602613 Nov 08, 2017 (151)
38 GNOMAD ss2840384870 Nov 08, 2017 (151)
39 SWEGEN ss2999283777 Nov 08, 2017 (151)
40 BIOINF_KMB_FNS_UNIBA ss3025694538 Nov 08, 2017 (151)
41 CSHL ss3347036300 Nov 08, 2017 (151)
42 URBANLAB ss3648381452 Oct 12, 2018 (152)
43 EGCUT_WGS ss3667150982 Jul 13, 2019 (153)
44 EVA_DECODE ss3717460624 Jul 13, 2019 (153)
45 ACPOP ss3733617903 Jul 13, 2019 (153)
46 EVA ss3765168950 Jul 13, 2019 (153)
47 KHV_HUMAN_GENOMES ss3808318129 Jul 13, 2019 (153)
48 EVA ss3829989622 Apr 26, 2020 (154)
49 EVA ss3838475213 Apr 26, 2020 (154)
50 EVA ss3843922192 Apr 26, 2020 (154)
51 SGDP_PRJ ss3864844027 Apr 26, 2020 (154)
52 KRGDB ss3911707043 Apr 26, 2020 (154)
53 KOGIC ss3959288386 Apr 26, 2020 (154)
54 TOPMED ss4707361570 Apr 26, 2021 (155)
55 TOMMO_GENOMICS ss5178065564 Apr 26, 2021 (155)
56 1000G_HIGH_COVERAGE ss5268896565 Oct 17, 2022 (156)
57 EVA ss5366404296 Oct 17, 2022 (156)
58 HUGCELL_USP ss5466496486 Oct 17, 2022 (156)
59 EVA ss5508547676 Oct 17, 2022 (156)
60 1000G_HIGH_COVERAGE ss5555059119 Oct 17, 2022 (156)
61 SANFORD_IMAGENETICS ss5640657017 Oct 17, 2022 (156)
62 TOMMO_GENOMICS ss5716415514 Oct 17, 2022 (156)
63 YY_MCH ss5807590703 Oct 17, 2022 (156)
64 EVA ss5842426512 Oct 17, 2022 (156)
65 EVA ss5855406738 Oct 17, 2022 (156)
66 EVA ss5884303229 Oct 17, 2022 (156)
67 EVA ss5969150655 Oct 17, 2022 (156)
68 1000Genomes NC_000006.11 - 70380455 Oct 12, 2018 (152)
69 1000Genomes_30x NC_000006.12 - 69670563 Oct 17, 2022 (156)
70 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 70380455 Oct 12, 2018 (152)
71 Genetic variation in the Estonian population NC_000006.11 - 70380455 Oct 12, 2018 (152)
72 The Danish reference pan genome NC_000006.11 - 70380455 Apr 26, 2020 (154)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 228926070 (NC_000006.12:69670562:G:A 46059/139950)
Row 228926071 (NC_000006.12:69670562:G:C 1/140004)

- Apr 26, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 228926070 (NC_000006.12:69670562:G:A 46059/139950)
Row 228926071 (NC_000006.12:69670562:G:C 1/140004)

- Apr 26, 2021 (155)
75 Genome of the Netherlands Release 5 NC_000006.11 - 70380455 Apr 26, 2020 (154)
76 HapMap NC_000006.12 - 69670563 Apr 26, 2020 (154)
77 KOREAN population from KRGDB NC_000006.11 - 70380455 Apr 26, 2020 (154)
78 Korean Genome Project NC_000006.12 - 69670563 Apr 26, 2020 (154)
79 Northern Sweden NC_000006.11 - 70380455 Jul 13, 2019 (153)
80 Qatari NC_000006.11 - 70380455 Apr 26, 2020 (154)
81 SGDP_PRJ NC_000006.11 - 70380455 Apr 26, 2020 (154)
82 Siberian NC_000006.11 - 70380455 Apr 26, 2020 (154)
83 8.3KJPN NC_000006.11 - 70380455 Apr 26, 2021 (155)
84 14KJPN NC_000006.12 - 69670563 Oct 17, 2022 (156)
85 TopMed NC_000006.12 - 69670563 Apr 26, 2021 (155)
86 UK 10K study - Twins NC_000006.11 - 70380455 Oct 12, 2018 (152)
87 A Vietnamese Genetic Variation Database NC_000006.11 - 70380455 Jul 13, 2019 (153)
88 ALFA NC_000006.12 - 69670563 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)
rs59635298 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77444736, ss78315086, ss85428422 NC_000006.9:70437175:G:A NC_000006.12:69670562:G:A (self)
ss110302077, ss166849421, ss201986908, ss254437686, ss278855996, ss285434021, ss293630568, ss1592605513 NC_000006.10:70437175:G:A NC_000006.12:69670562:G:A (self)
32434780, 18069603, 12889230, 7891885, 8050143, 18884437, 6902768, 8363283, 16861007, 4510526, 36034871, 18069603, 4013887, ss222457275, ss233523649, ss240569341, ss559276513, ss653231967, ss983064415, ss1073710223, ss1320628644, ss1430772532, ss1581726946, ss1615824973, ss1658819006, ss1804490695, ss1926321353, ss1970428130, ss2023802241, ss2151994172, ss2626395932, ss2707602613, ss2840384870, ss2999283777, ss3347036300, ss3667150982, ss3733617903, ss3765168950, ss3829989622, ss3838475213, ss3864844027, ss3911707043, ss5178065564, ss5366404296, ss5508547676, ss5640657017, ss5842426512, ss5969150655 NC_000006.11:70380454:G:A NC_000006.12:69670562:G:A (self)
42585054, 3158145, 15666387, 50252618, 544739128, 322417258, ss2284913330, ss3025694538, ss3648381452, ss3717460624, ss3808318129, ss3843922192, ss3959288386, ss4707361570, ss5268896565, ss5466496486, ss5555059119, ss5716415514, ss5807590703, ss5855406738, ss5884303229 NC_000006.12:69670562:G:A NC_000006.12:69670562:G:A (self)
ss12570468, ss12789392, ss44744196, ss98507568, ss143048438, ss157114297 NT_007299.13:8500288:G:A NC_000006.12:69670562:G:A (self)
18884437, ss3911707043 NC_000006.11:70380454:G:C NC_000006.12:69670562:G:C (self)
322417258 NC_000006.12:69670562:G:C NC_000006.12:69670562:G:C (self)
322417258 NC_000006.12:69670562:G:T NC_000006.12:69670562: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 rs8180582

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