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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.

rs765547

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:20008763 (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=0.223359 (59121/264690, TOPMED)
A=0.19287 (5450/28258, 14KJPN)
A=0.16291 (3831/23516, ALFA) (+ 18 more)
A=0.19481 (3265/16760, 8.3KJPN)
A=0.2142 (1372/6404, 1000G_30x)
A=0.2127 (1065/5008, 1000G)
A=0.2607 (1168/4480, Estonian)
A=0.2719 (1048/3854, ALSPAC)
A=0.2627 (974/3708, TWINSUK)
A=0.2048 (600/2930, KOREAN)
A=0.1776 (336/1892, HapMap)
A=0.2014 (369/1832, Korea1K)
A=0.2676 (297/1110, Daghestan)
A=0.261 (260/998, GoNL)
A=0.244 (153/626, Chileans)
A=0.245 (147/600, NorthernSweden)
G=0.425 (96/226, SGDP_PRJ)
A=0.273 (59/216, Qatari)
A=0.23 (9/40, GENOME_DK)
G=0.50 (11/22, Siberian)
A=0.50 (11/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
5 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 23516 G=0.83709 A=0.16291, C=0.00000, T=0.00000 0.712621 0.038442 0.248937 32
European Sub 13852 G=0.81389 A=0.18611, C=0.00000, T=0.00000 0.674704 0.046925 0.278371 24
African Sub 5500 G=0.9124 A=0.0876, C=0.0000, T=0.0000 0.835636 0.010909 0.153455 3
African Others Sub 190 G=0.926 A=0.074, C=0.000, T=0.000 0.852632 0.0 0.147368 0
African American Sub 5310 G=0.9119 A=0.0881, C=0.0000, T=0.0000 0.835028 0.011299 0.153672 3
Asian Sub 104 G=0.894 A=0.106, C=0.000, T=0.000 0.807692 0.019231 0.173077 0
East Asian Sub 56 G=0.93 A=0.07, C=0.00, T=0.00 0.857143 0.0 0.142857 0
Other Asian Sub 48 G=0.85 A=0.15, C=0.00, T=0.00 0.75 0.041667 0.208333 0
Latin American 1 Sub 240 G=0.900 A=0.100, C=0.000, T=0.000 0.816667 0.016667 0.166667 0
Latin American 2 Sub 2530 G=0.7949 A=0.2051, C=0.0000, T=0.0000 0.64664 0.056917 0.296443 6
South Asian Sub 78 G=0.94 A=0.06, C=0.00, T=0.00 0.897436 0.025641 0.076923 3
Other Sub 1212 G=0.8251 A=0.1749, C=0.0000, T=0.0000 0.684818 0.034653 0.280528 0


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=0.776641 A=0.223359
14KJPN JAPANESE Study-wide 28258 G=0.80713 A=0.19287
Allele Frequency Aggregator Total Global 23516 G=0.83709 A=0.16291, C=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 13852 G=0.81389 A=0.18611, C=0.00000, T=0.00000
Allele Frequency Aggregator African Sub 5500 G=0.9124 A=0.0876, C=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2530 G=0.7949 A=0.2051, C=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 1212 G=0.8251 A=0.1749, C=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 240 G=0.900 A=0.100, C=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 104 G=0.894 A=0.106, C=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 78 G=0.94 A=0.06, C=0.00, T=0.00
8.3KJPN JAPANESE Study-wide 16760 G=0.80519 A=0.19481
1000Genomes_30x Global Study-wide 6404 G=0.7850 A=0.2142, C=0.0008
1000Genomes_30x African Sub 1786 G=0.8701 A=0.1299, C=0.0000
1000Genomes_30x Europe Sub 1266 G=0.6991 A=0.3009, C=0.0000
1000Genomes_30x South Asian Sub 1202 G=0.7895 A=0.2105, C=0.0000
1000Genomes_30x East Asian Sub 1170 G=0.7658 A=0.2299, C=0.0043
1000Genomes_30x American Sub 980 G=0.758 A=0.242, C=0.000
1000Genomes Global Study-wide 5008 G=0.7873 A=0.2127
1000Genomes African Sub 1322 G=0.8722 A=0.1278
1000Genomes East Asian Sub 1008 G=0.7679 A=0.2321
1000Genomes Europe Sub 1006 G=0.7147 A=0.2853
1000Genomes South Asian Sub 978 G=0.786 A=0.214
1000Genomes American Sub 694 G=0.761 A=0.239
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7393 A=0.2607
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7281 A=0.2719
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7373 A=0.2627
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7952 A=0.2048
HapMap Global Study-wide 1892 G=0.8224 A=0.1776
HapMap American Sub 770 G=0.790 A=0.210
HapMap African Sub 692 G=0.896 A=0.104
HapMap Asian Sub 254 G=0.791 A=0.209
HapMap Europe Sub 176 G=0.722 A=0.278
Korean Genome Project KOREAN Study-wide 1832 G=0.7986 A=0.2014
Genome-wide autozygosity in Daghestan Global Study-wide 1110 G=0.7324 A=0.2676
Genome-wide autozygosity in Daghestan Daghestan Sub 614 G=0.725 A=0.275
Genome-wide autozygosity in Daghestan Near_East Sub 134 G=0.746 A=0.254
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.795 A=0.205
Genome-wide autozygosity in Daghestan Europe Sub 106 G=0.698 A=0.302
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.70 A=0.30
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.78 A=0.22
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.739 A=0.261
Chileans Chilean Study-wide 626 G=0.756 A=0.244
Northern Sweden ACPOP Study-wide 600 G=0.755 A=0.245
SGDP_PRJ Global Study-wide 226 G=0.425 A=0.571, C=0.004
Qatari Global Study-wide 216 G=0.727 A=0.273
The Danish reference pan genome Danish Study-wide 40 G=0.78 A=0.23
Siberian Global Study-wide 22 G=0.50 A=0.50
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 8 NC_000008.11:g.20008763G>A
GRCh38.p14 chr 8 NC_000008.11:g.20008763G>C
GRCh38.p14 chr 8 NC_000008.11:g.20008763G>T
GRCh37.p13 chr 8 NC_000008.10:g.19866274G>A
GRCh37.p13 chr 8 NC_000008.10:g.19866274G>C
GRCh37.p13 chr 8 NC_000008.10:g.19866274G>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 8 NC_000008.11:g.20008763= NC_000008.11:g.20008763G>A NC_000008.11:g.20008763G>C NC_000008.11:g.20008763G>T
GRCh37.p13 chr 8 NC_000008.10:g.19866274= NC_000008.10:g.19866274G>A NC_000008.10:g.19866274G>C NC_000008.10:g.19866274G>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#.

69 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss152509 Oct 05, 2000 (86)
2 TSC-CSHL ss5566190 Oct 10, 2002 (111)
3 SC_JCM ss11267509 Jul 11, 2003 (126)
4 CSHL-HAPMAP ss19757480 Feb 27, 2004 (126)
5 ABI ss43121204 Mar 10, 2006 (126)
6 AFFY ss66285649 Nov 29, 2006 (127)
7 AFFY ss75946006 Dec 06, 2007 (129)
8 KRIBB_YJKIM ss81437161 Dec 16, 2007 (130)
9 BGI ss104512613 Feb 13, 2009 (131)
10 ENSEMBL ss161627795 Dec 01, 2009 (131)
11 AFFY ss169501962 Jul 04, 2010 (132)
12 BCM-HGSC-SUB ss208526766 Jul 04, 2010 (132)
13 1000GENOMES ss223585984 Jul 14, 2010 (132)
14 1000GENOMES ss234352714 Jul 15, 2010 (132)
15 1000GENOMES ss241227487 Jul 15, 2010 (132)
16 ILLUMINA ss244267405 Jul 04, 2010 (132)
17 BL ss254172033 May 09, 2011 (134)
18 GMI ss279724219 May 04, 2012 (137)
19 ILLUMINA ss410878835 Sep 17, 2011 (135)
20 EVA-GONL ss985273143 Aug 21, 2014 (142)
21 JMKIDD_LAB ss1075340471 Aug 21, 2014 (142)
22 1000GENOMES ss1328916966 Aug 21, 2014 (142)
23 HAMMER_LAB ss1397520256 Sep 08, 2015 (146)
24 DDI ss1431441701 Apr 01, 2015 (144)
25 EVA_GENOME_DK ss1582593981 Apr 01, 2015 (144)
26 EVA_DECODE ss1594862810 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1620134780 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1663128813 Apr 01, 2015 (144)
29 EVA_SVP ss1713021156 Apr 01, 2015 (144)
30 WEILL_CORNELL_DGM ss1928562902 Feb 12, 2016 (147)
31 GENOMED ss1970930032 Jul 19, 2016 (147)
32 JJLAB ss2024980853 Sep 14, 2016 (149)
33 USC_VALOUEV ss2153202281 Dec 20, 2016 (150)
34 HUMAN_LONGEVITY ss2301291846 Dec 20, 2016 (150)
35 SYSTEMSBIOZJU ss2626975279 Nov 08, 2017 (151)
36 GRF ss2708962783 Nov 08, 2017 (151)
37 GNOMAD ss2864097742 Nov 08, 2017 (151)
38 SWEGEN ss3002805129 Nov 08, 2017 (151)
39 BIOINF_KMB_FNS_UNIBA ss3026281277 Nov 08, 2017 (151)
40 CSHL ss3348082255 Nov 08, 2017 (151)
41 EGCUT_WGS ss3670485224 Jul 13, 2019 (153)
42 EVA_DECODE ss3721556332 Jul 13, 2019 (153)
43 ACPOP ss3735467484 Jul 13, 2019 (153)
44 EVA ss3767718319 Jul 13, 2019 (153)
45 PACBIO ss3786087531 Jul 13, 2019 (153)
46 PACBIO ss3791353931 Jul 13, 2019 (153)
47 PACBIO ss3796235101 Jul 13, 2019 (153)
48 KHV_HUMAN_GENOMES ss3810881847 Jul 13, 2019 (153)
49 KHV_HUMAN_GENOMES ss3810881848 Jul 13, 2019 (153)
50 EVA ss3831055199 Apr 26, 2020 (154)
51 EVA ss3839037719 Apr 26, 2020 (154)
52 EVA ss3844495744 Apr 26, 2020 (154)
53 SGDP_PRJ ss3869437615 Apr 26, 2020 (154)
54 KRGDB ss3916863461 Apr 26, 2020 (154)
55 KOGIC ss3963402972 Apr 26, 2020 (154)
56 TOPMED ss4778108117 Apr 27, 2021 (155)
57 TOMMO_GENOMICS ss5187656260 Apr 27, 2021 (155)
58 1000G_HIGH_COVERAGE ss5276331712 Oct 14, 2022 (156)
59 1000G_HIGH_COVERAGE ss5276331713 Oct 14, 2022 (156)
60 EVA ss5379645043 Oct 14, 2022 (156)
61 HUGCELL_USP ss5472982286 Oct 14, 2022 (156)
62 1000G_HIGH_COVERAGE ss5566256351 Oct 14, 2022 (156)
63 SANFORD_IMAGENETICS ss5644924785 Oct 14, 2022 (156)
64 TOMMO_GENOMICS ss5729273362 Oct 14, 2022 (156)
65 YY_MCH ss5809517109 Oct 14, 2022 (156)
66 EVA ss5830225089 Oct 14, 2022 (156)
67 EVA ss5856287308 Oct 14, 2022 (156)
68 EVA ss5888023336 Oct 14, 2022 (156)
69 EVA ss5974105342 Oct 14, 2022 (156)
70 1000Genomes NC_000008.10 - 19866274 Oct 12, 2018 (152)
71 1000Genomes_30x NC_000008.11 - 20008763 Oct 14, 2022 (156)
72 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 19866274 Oct 12, 2018 (152)
73 Chileans NC_000008.10 - 19866274 Apr 26, 2020 (154)
74 Genome-wide autozygosity in Daghestan NC_000008.9 - 19910554 Apr 26, 2020 (154)
75 Genetic variation in the Estonian population NC_000008.10 - 19866274 Oct 12, 2018 (152)
76 The Danish reference pan genome NC_000008.10 - 19866274 Apr 26, 2020 (154)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 289207250 (NC_000008.11:20008762:G:A 31921/140032)
Row 289207251 (NC_000008.11:20008762:G:C 4/140074)

- Apr 27, 2021 (155)
78 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 289207250 (NC_000008.11:20008762:G:A 31921/140032)
Row 289207251 (NC_000008.11:20008762:G:C 4/140074)

- Apr 27, 2021 (155)
79 Genome of the Netherlands Release 5 NC_000008.10 - 19866274 Apr 26, 2020 (154)
80 HapMap NC_000008.11 - 20008763 Apr 26, 2020 (154)
81 KOREAN population from KRGDB NC_000008.10 - 19866274 Apr 26, 2020 (154)
82 Korean Genome Project NC_000008.11 - 20008763 Apr 26, 2020 (154)
83 Northern Sweden NC_000008.10 - 19866274 Jul 13, 2019 (153)
84 Qatari NC_000008.10 - 19866274 Apr 26, 2020 (154)
85 SGDP_PRJ NC_000008.10 - 19866274 Apr 26, 2020 (154)
86 Siberian NC_000008.10 - 19866274 Apr 26, 2020 (154)
87 8.3KJPN NC_000008.10 - 19866274 Apr 27, 2021 (155)
88 14KJPN NC_000008.11 - 20008763 Oct 14, 2022 (156)
89 TopMed NC_000008.11 - 20008763 Apr 27, 2021 (155)
90 UK 10K study - Twins NC_000008.10 - 19866274 Oct 12, 2018 (152)
91 A Vietnamese Genetic Variation Database

Submission ignored due to conflicting rows:
Row 5083720 (NC_000008.10:19866273:G:G 171/173, NC_000008.10:19866273:G:C 2/173)
Row 5083721 (NC_000008.10:19866273:G:G 171/210, NC_000008.10:19866273:G:A 39/210)

- Jul 13, 2019 (153)
92 A Vietnamese Genetic Variation Database

Submission ignored due to conflicting rows:
Row 5083720 (NC_000008.10:19866273:G:G 171/173, NC_000008.10:19866273:G:C 2/173)
Row 5083721 (NC_000008.10:19866273:G:G 171/210, NC_000008.10:19866273:G:A 39/210)

- Jul 13, 2019 (153)
93 ALFA NC_000008.11 - 20008763 Apr 27, 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)
rs4123327 Feb 20, 2003 (111)
rs7461111 Mar 10, 2006 (126)
rs61325168 Feb 26, 2009 (130)
rs72500147 Dec 02, 2009 (131)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
494150, ss208526766, ss254172033, ss279724219, ss1397520256, ss1594862810, ss1713021156 NC_000008.9:19910553:G:A NC_000008.11:20008762:G:A (self)
41011759, 22798250, 429667, 16223472, 8758919, 10187456, 24040855, 8752349, 10604832, 21454595, 5718635, 45625567, 22798250, ss223585984, ss234352714, ss241227487, ss985273143, ss1075340471, ss1328916966, ss1431441701, ss1582593981, ss1620134780, ss1663128813, ss1928562902, ss1970930032, ss2024980853, ss2153202281, ss2626975279, ss2708962783, ss2864097742, ss3002805129, ss3348082255, ss3670485224, ss3735467484, ss3767718319, ss3786087531, ss3791353931, ss3796235101, ss3831055199, ss3839037719, ss3869437615, ss3916863461, ss5187656260, ss5379645043, ss5644924785, ss5830225089, ss5974105342 NC_000008.10:19866273:G:A NC_000008.11:20008762:G:A (self)
53782286, 3581140, 19780973, 63110466, 615485677, 2047187199, ss2301291846, ss3026281277, ss3721556332, ss3810881847, ss3844495744, ss3963402972, ss4778108117, ss5276331712, ss5472982286, ss5566256351, ss5729273362, ss5809517109, ss5856287308, ss5888023336 NC_000008.11:20008762:G:A NC_000008.11:20008762:G:A (self)
ss11267509 NT_030737.7:3587497:G:A NC_000008.11:20008762:G:A (self)
ss19757480 NT_030737.8:7677194:G:A NC_000008.11:20008762:G:A (self)
ss152509, ss5566190, ss43121204, ss66285649, ss75946006, ss81437161, ss104512613, ss161627795, ss169501962, ss244267405, ss410878835 NT_167187.1:7724419:G:A NC_000008.11:20008762:G:A (self)
21454595, ss2864097742, ss3869437615 NC_000008.10:19866273:G:C NC_000008.11:20008762:G:C (self)
53782286, 2047187199, ss2301291846, ss3810881848, ss5276331713, ss5566256351 NC_000008.11:20008762:G:C NC_000008.11:20008762:G:C (self)
2047187199 NC_000008.11:20008762:G:T NC_000008.11:20008762: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.

5 citations for rs765547
PMID Title Author Year Journal
19924713 Use of longitudinal data in genetic studies in the genome-wide association studies era: summary of Group 14. Kerner B et al. 2009 Genetic epidemiology
20018038 Evaluation of genetic risk scores for lipid levels using genome-wide markers in the Framingham Heart Study. Piccolo SR et al. 2009 BMC proceedings
20370913 Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data. Ma L et al. 2010 BMC medical genetics
21103364 Multi-locus test conditional on confirmed effects leads to increased power in genome-wide association studies. Ma L et al. 2010 PloS one
29632305 New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population. Lee HS et al. 2018 Scientific reports
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.post820+afb47a3d