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.

rs1772343

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:28736453 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.429997 (113816/264690, TOPMED)
A=0.451474 (63173/139926, GnomAD)
A=0.19761 (5584/28258, 14KJPN) (+ 16 more)
A=0.47687 (9008/18890, ALFA)
A=0.19976 (3348/16760, 8.3KJPN)
A=0.3754 (2404/6404, 1000G_30x)
A=0.3752 (1879/5008, 1000G)
G=0.4491 (2012/4480, Estonian)
A=0.4813 (1855/3854, ALSPAC)
A=0.4811 (1784/3708, TWINSUK)
A=0.2085 (611/2930, KOREAN)
A=0.1998 (366/1832, Korea1K)
A=0.488 (487/998, GoNL)
A=0.493 (296/600, NorthernSweden)
G=0.361 (112/310, SGDP_PRJ)
A=0.389 (84/216, Qatari)
A=0.218 (47/216, Vietnamese)
G=0.45 (18/40, GENOME_DK)
G=0.40 (12/30, 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 18890 G=0.52313 A=0.47687
European Sub 14286 G=0.50035 A=0.49965
African Sub 2946 G=0.5920 A=0.4080
African Others Sub 114 G=0.658 A=0.342
African American Sub 2832 G=0.5893 A=0.4107
Asian Sub 112 G=0.777 A=0.223
East Asian Sub 86 G=0.80 A=0.20
Other Asian Sub 26 G=0.69 A=0.31
Latin American 1 Sub 146 G=0.534 A=0.466
Latin American 2 Sub 610 G=0.620 A=0.380
South Asian Sub 98 G=0.57 A=0.43
Other Sub 692 G=0.565 A=0.435


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=0.570003 A=0.429997
gnomAD - Genomes Global Study-wide 139926 G=0.548526 A=0.451474
gnomAD - Genomes European Sub 75812 G=0.50518 A=0.49482
gnomAD - Genomes African Sub 41894 G=0.58846 A=0.41154
gnomAD - Genomes American Sub 13630 G=0.61174 A=0.38826
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.5439 A=0.4561
gnomAD - Genomes East Asian Sub 3122 G=0.7931 A=0.2069
gnomAD - Genomes Other Sub 2144 G=0.5499 A=0.4501
14KJPN JAPANESE Study-wide 28258 G=0.80239 A=0.19761
Allele Frequency Aggregator Total Global 18890 G=0.52313 A=0.47687
Allele Frequency Aggregator European Sub 14286 G=0.50035 A=0.49965
Allele Frequency Aggregator African Sub 2946 G=0.5920 A=0.4080
Allele Frequency Aggregator Other Sub 692 G=0.565 A=0.435
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.620 A=0.380
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.534 A=0.466
Allele Frequency Aggregator Asian Sub 112 G=0.777 A=0.223
Allele Frequency Aggregator South Asian Sub 98 G=0.57 A=0.43
8.3KJPN JAPANESE Study-wide 16760 G=0.80024 A=0.19976
1000Genomes_30x Global Study-wide 6404 G=0.6246 A=0.3754
1000Genomes_30x African Sub 1786 G=0.5969 A=0.4031
1000Genomes_30x Europe Sub 1266 G=0.5237 A=0.4763
1000Genomes_30x South Asian Sub 1202 G=0.6165 A=0.3835
1000Genomes_30x East Asian Sub 1170 G=0.8077 A=0.1923
1000Genomes_30x American Sub 980 G=0.597 A=0.403
1000Genomes Global Study-wide 5008 G=0.6248 A=0.3752
1000Genomes African Sub 1322 G=0.5946 A=0.4054
1000Genomes East Asian Sub 1008 G=0.8065 A=0.1935
1000Genomes Europe Sub 1006 G=0.5169 A=0.4831
1000Genomes South Asian Sub 978 G=0.611 A=0.389
1000Genomes American Sub 694 G=0.594 A=0.406
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4491 A=0.5509
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5187 A=0.4813
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5189 A=0.4811
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7915 A=0.2085
Korean Genome Project KOREAN Study-wide 1832 G=0.8002 A=0.1998
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.512 A=0.488
Northern Sweden ACPOP Study-wide 600 G=0.507 A=0.493
SGDP_PRJ Global Study-wide 310 G=0.361 A=0.639
Qatari Global Study-wide 216 G=0.611 A=0.389
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.782 A=0.218
The Danish reference pan genome Danish Study-wide 40 G=0.45 A=0.55
Siberian Global Study-wide 30 G=0.40 A=0.60
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 13 NC_000013.11:g.28736453G>A
GRCh37.p13 chr 13 NC_000013.10:g.29310590G>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 G= A
GRCh38.p14 chr 13 NC_000013.11:g.28736453= NC_000013.11:g.28736453G>A
GRCh37.p13 chr 13 NC_000013.10:g.29310590= NC_000013.10:g.29310590G>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#.

72 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss2632304 Nov 09, 2000 (89)
2 WI_SSAHASNP ss12245176 Jul 11, 2003 (116)
3 SC_SNP ss13302772 Dec 05, 2003 (119)
4 CSHL-HAPMAP ss19271640 Feb 27, 2004 (120)
5 SSAHASNP ss21122752 Apr 05, 2004 (121)
6 HGSV ss77595649 Dec 07, 2007 (129)
7 BCMHGSC_JDW ss89559384 Mar 24, 2008 (129)
8 HUMANGENOME_JCVI ss96954816 Feb 05, 2009 (130)
9 BGI ss103106572 Dec 01, 2009 (131)
10 1000GENOMES ss114467809 Jan 25, 2009 (130)
11 ENSEMBL ss133504868 Dec 01, 2009 (131)
12 ENSEMBL ss137273712 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss167792975 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss169073245 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss170933111 Jul 04, 2010 (132)
16 BUSHMAN ss199014338 Jul 04, 2010 (132)
17 1000GENOMES ss226099766 Jul 14, 2010 (132)
18 1000GENOMES ss236190815 Jul 15, 2010 (132)
19 1000GENOMES ss242698288 Jul 15, 2010 (132)
20 BL ss254885938 May 09, 2011 (134)
21 GMI ss281653354 May 04, 2012 (137)
22 GMI ss286675454 Apr 25, 2013 (138)
23 PJP ss291565043 May 09, 2011 (134)
24 TISHKOFF ss563572153 Apr 25, 2013 (138)
25 SSMP ss659167879 Apr 25, 2013 (138)
26 EVA-GONL ss990229265 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1078964363 Aug 21, 2014 (142)
28 1000GENOMES ss1347622919 Aug 21, 2014 (142)
29 DDI ss1427140775 Apr 01, 2015 (144)
30 EVA_GENOME_DK ss1576695579 Apr 01, 2015 (144)
31 EVA_UK10K_ALSPAC ss1629958876 Apr 01, 2015 (144)
32 EVA_DECODE ss1642333740 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1672952909 Apr 01, 2015 (144)
34 HAMMER_LAB ss1807542244 Sep 08, 2015 (146)
35 WEILL_CORNELL_DGM ss1933598229 Feb 12, 2016 (147)
36 GENOMED ss1967743570 Jul 19, 2016 (147)
37 JJLAB ss2027554846 Sep 14, 2016 (149)
38 USC_VALOUEV ss2155919492 Dec 20, 2016 (150)
39 HUMAN_LONGEVITY ss2195108927 Dec 20, 2016 (150)
40 SYSTEMSBIOZJU ss2628265526 Nov 08, 2017 (151)
41 GRF ss2700291662 Nov 08, 2017 (151)
42 GNOMAD ss2917952863 Nov 08, 2017 (151)
43 SWEGEN ss3010775490 Nov 08, 2017 (151)
44 BIOINF_KMB_FNS_UNIBA ss3027592924 Nov 08, 2017 (151)
45 CSHL ss3350382302 Nov 08, 2017 (151)
46 URBANLAB ss3649996690 Oct 12, 2018 (152)
47 EGCUT_WGS ss3678036252 Jul 13, 2019 (153)
48 EVA_DECODE ss3694993086 Jul 13, 2019 (153)
49 ACPOP ss3739613156 Jul 13, 2019 (153)
50 EVA ss3751276749 Jul 13, 2019 (153)
51 PACBIO ss3787414513 Jul 13, 2019 (153)
52 PACBIO ss3792487149 Jul 13, 2019 (153)
53 PACBIO ss3797370865 Jul 13, 2019 (153)
54 KHV_HUMAN_GENOMES ss3816607976 Jul 13, 2019 (153)
55 EVA ss3833467412 Apr 27, 2020 (154)
56 SGDP_PRJ ss3879662401 Apr 27, 2020 (154)
57 KRGDB ss3928483936 Apr 27, 2020 (154)
58 KOGIC ss3973269744 Apr 27, 2020 (154)
59 TOPMED ss4941024374 Apr 26, 2021 (155)
60 TOMMO_GENOMICS ss5209320091 Apr 26, 2021 (155)
61 1000G_HIGH_COVERAGE ss5293211289 Oct 16, 2022 (156)
62 EVA ss5409810582 Oct 16, 2022 (156)
63 HUGCELL_USP ss5487627239 Oct 16, 2022 (156)
64 EVA ss5510919204 Oct 16, 2022 (156)
65 1000G_HIGH_COVERAGE ss5591897146 Oct 16, 2022 (156)
66 SANFORD_IMAGENETICS ss5654468208 Oct 16, 2022 (156)
67 TOMMO_GENOMICS ss5761002606 Oct 16, 2022 (156)
68 YY_MCH ss5813979528 Oct 16, 2022 (156)
69 EVA ss5839267840 Oct 16, 2022 (156)
70 EVA ss5850662209 Oct 16, 2022 (156)
71 EVA ss5924500570 Oct 16, 2022 (156)
72 EVA ss5945874681 Oct 16, 2022 (156)
73 1000Genomes NC_000013.10 - 29310590 Oct 12, 2018 (152)
74 1000Genomes_30x NC_000013.11 - 28736453 Oct 16, 2022 (156)
75 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 29310590 Oct 12, 2018 (152)
76 Genetic variation in the Estonian population NC_000013.10 - 29310590 Oct 12, 2018 (152)
77 The Danish reference pan genome NC_000013.10 - 29310590 Apr 27, 2020 (154)
78 gnomAD - Genomes NC_000013.11 - 28736453 Apr 26, 2021 (155)
79 Genome of the Netherlands Release 5 NC_000013.10 - 29310590 Apr 27, 2020 (154)
80 KOREAN population from KRGDB NC_000013.10 - 29310590 Apr 27, 2020 (154)
81 Korean Genome Project NC_000013.11 - 28736453 Apr 27, 2020 (154)
82 Northern Sweden NC_000013.10 - 29310590 Jul 13, 2019 (153)
83 Qatari NC_000013.10 - 29310590 Apr 27, 2020 (154)
84 SGDP_PRJ NC_000013.10 - 29310590 Apr 27, 2020 (154)
85 Siberian NC_000013.10 - 29310590 Apr 27, 2020 (154)
86 8.3KJPN NC_000013.10 - 29310590 Apr 26, 2021 (155)
87 14KJPN NC_000013.11 - 28736453 Oct 16, 2022 (156)
88 TopMed NC_000013.11 - 28736453 Apr 26, 2021 (155)
89 UK 10K study - Twins NC_000013.10 - 29310590 Oct 12, 2018 (152)
90 A Vietnamese Genetic Variation Database NC_000013.10 - 29310590 Jul 13, 2019 (153)
91 ALFA NC_000013.11 - 28736453 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77595649, ss89559384, ss114467809, ss167792975, ss169073245, ss170933111, ss199014338, ss254885938, ss281653354, ss286675454, ss291565043, ss1642333740 NC_000013.9:28208589:G:A NC_000013.11:28736452:G:A (self)
60471483, 33585896, 23774500, 3234771, 14985724, 35661330, 12898021, 15640159, 31679381, 8435846, 67289398, 33585896, 7449977, ss226099766, ss236190815, ss242698288, ss563572153, ss659167879, ss990229265, ss1078964363, ss1347622919, ss1427140775, ss1576695579, ss1629958876, ss1672952909, ss1807542244, ss1933598229, ss1967743570, ss2027554846, ss2155919492, ss2628265526, ss2700291662, ss2917952863, ss3010775490, ss3350382302, ss3678036252, ss3739613156, ss3751276749, ss3787414513, ss3792487149, ss3797370865, ss3833467412, ss3879662401, ss3928483936, ss5209320091, ss5409810582, ss5510919204, ss5654468208, ss5839267840, ss5945874681 NC_000013.10:29310589:G:A NC_000013.11:28736452:G:A (self)
79423081, 426408099, 29647745, 94839710, 156570032, 6560051164, ss2195108927, ss3027592924, ss3649996690, ss3694993086, ss3816607976, ss3973269744, ss4941024374, ss5293211289, ss5487627239, ss5591897146, ss5761002606, ss5813979528, ss5850662209, ss5924500570 NC_000013.11:28736452:G:A NC_000013.11:28736452:G:A (self)
ss12245176, ss13302772 NT_009799.12:10290589:G:A NC_000013.11:28736452:G:A (self)
ss19271640, ss21122752 NT_024524.13:10290589:G:A NC_000013.11:28736452:G:A (self)
ss2632304, ss96954816, ss103106572, ss133504868, ss137273712 NT_024524.14:10290589:G:A NC_000013.11:28736452:G:A (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 rs1772343

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