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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.

rs13032423

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:57764977 (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=0.499770 (132284/264690, TOPMED)
G=0.496430 (69534/140068, GnomAD)
G=0.46543 (13152/28258, 14KJPN) (+ 17 more)
G=0.49492 (10815/21852, ALFA)
G=0.46325 (7764/16760, 8.3KJPN)
A=0.4752 (3043/6404, 1000G_30x)
A=0.4762 (2385/5008, 1000G)
A=0.4629 (2074/4480, Estonian)
G=0.4465 (1721/3854, ALSPAC)
G=0.4350 (1613/3708, TWINSUK)
G=0.4464 (1308/2930, KOREAN)
G=0.4852 (915/1886, HapMap)
G=0.4285 (785/1832, Korea1K)
G=0.469 (468/998, GoNL)
A=0.460 (276/600, NorthernSweden)
G=0.321 (124/386, SGDP_PRJ)
G=0.463 (100/216, Qatari)
A=0.332 (69/208, Vietnamese)
G=0.45 (18/40, GENOME_DK)
G=0.36 (13/36, 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 21852 G=0.49492 A=0.50508 0.247392 0.257551 0.495058 1
European Sub 15966 G=0.47401 A=0.52599 0.227108 0.279093 0.493799 0
African Sub 4090 G=0.5526 A=0.4474 0.3022 0.197066 0.500733 0
African Others Sub 148 G=0.601 A=0.399 0.337838 0.135135 0.527027 0
African American Sub 3942 G=0.5507 A=0.4493 0.300863 0.199391 0.499746 0
Asian Sub 120 G=0.517 A=0.483 0.266667 0.233333 0.5 0
East Asian Sub 94 G=0.52 A=0.48 0.276596 0.234043 0.489362 0
Other Asian Sub 26 G=0.50 A=0.50 0.230769 0.230769 0.538462 0
Latin American 1 Sub 160 G=0.444 A=0.556 0.1625 0.275 0.5625 1
Latin American 2 Sub 664 G=0.639 A=0.361 0.391566 0.114458 0.493976 1
South Asian Sub 98 G=0.59 A=0.41 0.367347 0.183673 0.44898 0
Other Sub 754 G=0.493 A=0.507 0.251989 0.265252 0.482759 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=0.500230 A=0.499770
gnomAD - Genomes Global Study-wide 140068 G=0.496430 A=0.503570
gnomAD - Genomes European Sub 75862 G=0.46179 A=0.53821
gnomAD - Genomes African Sub 41944 G=0.55035 A=0.44965
gnomAD - Genomes American Sub 13656 G=0.53112 A=0.46888
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.3995 A=0.6005
gnomAD - Genomes East Asian Sub 3130 G=0.5642 A=0.4358
gnomAD - Genomes Other Sub 2152 G=0.4977 A=0.5023
14KJPN JAPANESE Study-wide 28258 G=0.46543 A=0.53457
Allele Frequency Aggregator Total Global 21852 G=0.49492 A=0.50508
Allele Frequency Aggregator European Sub 15966 G=0.47401 A=0.52599
Allele Frequency Aggregator African Sub 4090 G=0.5526 A=0.4474
Allele Frequency Aggregator Other Sub 754 G=0.493 A=0.507
Allele Frequency Aggregator Latin American 2 Sub 664 G=0.639 A=0.361
Allele Frequency Aggregator Latin American 1 Sub 160 G=0.444 A=0.556
Allele Frequency Aggregator Asian Sub 120 G=0.517 A=0.483
Allele Frequency Aggregator South Asian Sub 98 G=0.59 A=0.41
8.3KJPN JAPANESE Study-wide 16760 G=0.46325 A=0.53675
1000Genomes_30x Global Study-wide 6404 G=0.5248 A=0.4752
1000Genomes_30x African Sub 1786 G=0.5655 A=0.4345
1000Genomes_30x Europe Sub 1266 G=0.4676 A=0.5324
1000Genomes_30x South Asian Sub 1202 G=0.5183 A=0.4817
1000Genomes_30x East Asian Sub 1170 G=0.5607 A=0.4393
1000Genomes_30x American Sub 980 G=0.490 A=0.510
1000Genomes Global Study-wide 5008 G=0.5238 A=0.4762
1000Genomes African Sub 1322 G=0.5620 A=0.4380
1000Genomes East Asian Sub 1008 G=0.5635 A=0.4365
1000Genomes Europe Sub 1006 G=0.4722 A=0.5278
1000Genomes South Asian Sub 978 G=0.514 A=0.486
1000Genomes American Sub 694 G=0.481 A=0.519
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.5371 A=0.4629
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4465 A=0.5535
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4350 A=0.5650
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.4464 A=0.5536
HapMap Global Study-wide 1886 G=0.4852 A=0.5148
HapMap American Sub 766 G=0.516 A=0.484
HapMap African Sub 690 G=0.462 A=0.538
HapMap Asian Sub 254 G=0.500 A=0.500
HapMap Europe Sub 176 G=0.420 A=0.580
Korean Genome Project KOREAN Study-wide 1832 G=0.4285 A=0.5715
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.469 A=0.531
Northern Sweden ACPOP Study-wide 600 G=0.540 A=0.460
SGDP_PRJ Global Study-wide 386 G=0.321 A=0.679
Qatari Global Study-wide 216 G=0.463 A=0.537
A Vietnamese Genetic Variation Database Global Study-wide 208 G=0.668 A=0.332
The Danish reference pan genome Danish Study-wide 40 G=0.45 A=0.55
Siberian Global Study-wide 36 G=0.36 A=0.64
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 2 NC_000002.12:g.57764977G>A
GRCh37.p13 chr 2 NC_000002.11:g.57992112G>A
ACTG1P22 pseudogene NG_021565.1:g.124G>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 2 NC_000002.12:g.57764977= NC_000002.12:g.57764977G>A
GRCh37.p13 chr 2 NC_000002.11:g.57992112= NC_000002.11:g.57992112G>A
ACTG1P22 pseudogene NG_021565.1:g.124= NG_021565.1:g.124G>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#.

77 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss21740318 Apr 05, 2004 (121)
2 CSHL-HAPMAP ss68381649 Jan 12, 2007 (127)
3 ILLUMINA ss75014509 Dec 07, 2007 (129)
4 BCMHGSC_JDW ss91177165 Mar 24, 2008 (129)
5 HUMANGENOME_JCVI ss96399477 Feb 06, 2009 (130)
6 1000GENOMES ss109553756 Jan 24, 2009 (130)
7 KRIBB_YJKIM ss119822694 Dec 01, 2009 (131)
8 ENSEMBL ss135843750 Dec 01, 2009 (131)
9 ENSEMBL ss138451245 Dec 01, 2009 (131)
10 GMI ss157111499 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss164470473 Jul 04, 2010 (132)
12 ILLUMINA ss172308806 Jul 04, 2010 (132)
13 BUSHMAN ss200499497 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss205844079 Jul 04, 2010 (132)
15 1000GENOMES ss210906420 Jul 14, 2010 (132)
16 1000GENOMES ss219272243 Jul 14, 2010 (132)
17 1000GENOMES ss231187094 Jul 14, 2010 (132)
18 1000GENOMES ss238737563 Jul 15, 2010 (132)
19 BL ss253133082 May 09, 2011 (134)
20 GMI ss276487443 May 04, 2012 (137)
21 GMI ss284354093 Apr 25, 2013 (138)
22 PJP ss292277027 May 09, 2011 (134)
23 TISHKOFF ss555594994 Apr 25, 2013 (138)
24 SSMP ss649180776 Apr 25, 2013 (138)
25 EVA-GONL ss976878175 Aug 21, 2014 (142)
26 JMKIDD_LAB ss1069151947 Aug 21, 2014 (142)
27 1000GENOMES ss1297398189 Aug 21, 2014 (142)
28 DDI ss1428591773 Apr 01, 2015 (144)
29 EVA_GENOME_DK ss1578898541 Apr 01, 2015 (144)
30 EVA_UK10K_ALSPAC ss1603603260 Apr 01, 2015 (144)
31 EVA_UK10K_TWINSUK ss1646597293 Apr 01, 2015 (144)
32 EVA_SVP ss1712459007 Apr 01, 2015 (144)
33 HAMMER_LAB ss1796811429 Sep 08, 2015 (146)
34 WEILL_CORNELL_DGM ss1920111773 Feb 12, 2016 (147)
35 GENOMED ss1968781571 Jul 19, 2016 (147)
36 JJLAB ss2020590115 Sep 14, 2016 (149)
37 USC_VALOUEV ss2148633897 Dec 20, 2016 (150)
38 HUMAN_LONGEVITY ss2230626910 Dec 20, 2016 (150)
39 SYSTEMSBIOZJU ss2624806164 Nov 08, 2017 (151)
40 GRF ss2703202628 Nov 08, 2017 (151)
41 GNOMAD ss2773921154 Nov 08, 2017 (151)
42 SWEGEN ss2989568186 Nov 08, 2017 (151)
43 BIOINF_KMB_FNS_UNIBA ss3024062006 Nov 08, 2017 (151)
44 CSHL ss3344249185 Nov 08, 2017 (151)
45 ILLUMINA ss3638262352 Oct 11, 2018 (152)
46 ILLUMINA ss3643232142 Oct 11, 2018 (152)
47 URBANLAB ss3647042011 Oct 11, 2018 (152)
48 EGCUT_WGS ss3657541453 Jul 13, 2019 (153)
49 EVA_DECODE ss3703967893 Jul 13, 2019 (153)
50 ACPOP ss3728469279 Jul 13, 2019 (153)
51 EVA ss3756808926 Jul 13, 2019 (153)
52 PACBIO ss3783872874 Jul 13, 2019 (153)
53 PACBIO ss3789458943 Jul 13, 2019 (153)
54 PACBIO ss3794331862 Jul 13, 2019 (153)
55 KHV_HUMAN_GENOMES ss3801181848 Jul 13, 2019 (153)
56 EVA ss3827002733 Apr 25, 2020 (154)
57 EVA ss3836911427 Apr 25, 2020 (154)
58 EVA ss3842327124 Apr 25, 2020 (154)
59 SGDP_PRJ ss3852352092 Apr 25, 2020 (154)
60 KRGDB ss3897824075 Apr 25, 2020 (154)
61 KOGIC ss3947825350 Apr 25, 2020 (154)
62 EVA ss4016998124 Apr 26, 2021 (155)
63 TOPMED ss4507081840 Apr 26, 2021 (155)
64 TOMMO_GENOMICS ss5151533578 Apr 26, 2021 (155)
65 1000G_HIGH_COVERAGE ss5248193998 Oct 12, 2022 (156)
66 EVA ss5329177893 Oct 12, 2022 (156)
67 HUGCELL_USP ss5448386649 Oct 12, 2022 (156)
68 EVA ss5506424543 Oct 12, 2022 (156)
69 1000G_HIGH_COVERAGE ss5523486098 Oct 12, 2022 (156)
70 SANFORD_IMAGENETICS ss5628819716 Oct 12, 2022 (156)
71 TOMMO_GENOMICS ss5680204270 Oct 12, 2022 (156)
72 YY_MCH ss5802238094 Oct 12, 2022 (156)
73 EVA ss5820150641 Oct 12, 2022 (156)
74 EVA ss5852538966 Oct 12, 2022 (156)
75 EVA ss5930520284 Oct 12, 2022 (156)
76 EVA ss5955054336 Oct 12, 2022 (156)
77 EVA ss5980057788 Oct 12, 2022 (156)
78 1000Genomes NC_000002.11 - 57992112 Oct 11, 2018 (152)
79 1000Genomes_30x NC_000002.12 - 57764977 Oct 12, 2022 (156)
80 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 57992112 Oct 11, 2018 (152)
81 Genetic variation in the Estonian population NC_000002.11 - 57992112 Oct 11, 2018 (152)
82 The Danish reference pan genome NC_000002.11 - 57992112 Apr 25, 2020 (154)
83 gnomAD - Genomes NC_000002.12 - 57764977 Apr 26, 2021 (155)
84 Genome of the Netherlands Release 5 NC_000002.11 - 57992112 Apr 25, 2020 (154)
85 HapMap NC_000002.12 - 57764977 Apr 25, 2020 (154)
86 KOREAN population from KRGDB NC_000002.11 - 57992112 Apr 25, 2020 (154)
87 Korean Genome Project NC_000002.12 - 57764977 Apr 25, 2020 (154)
88 Northern Sweden NC_000002.11 - 57992112 Jul 13, 2019 (153)
89 Qatari NC_000002.11 - 57992112 Apr 25, 2020 (154)
90 SGDP_PRJ NC_000002.11 - 57992112 Apr 25, 2020 (154)
91 Siberian NC_000002.11 - 57992112 Apr 25, 2020 (154)
92 8.3KJPN NC_000002.11 - 57992112 Apr 26, 2021 (155)
93 14KJPN NC_000002.12 - 57764977 Oct 12, 2022 (156)
94 TopMed NC_000002.12 - 57764977 Apr 26, 2021 (155)
95 UK 10K study - Twins NC_000002.11 - 57992112 Oct 11, 2018 (152)
96 A Vietnamese Genetic Variation Database NC_000002.11 - 57992112 Jul 13, 2019 (153)
97 ALFA NC_000002.12 - 57764977 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
ss91177165, ss109553756, ss164470473, ss200499497, ss205844079, ss210906420, ss253133082, ss276487443, ss284354093, ss292277027, ss1712459007, ss3643232142 NC_000002.10:57845615:G:A NC_000002.12:57764976:G:A (self)
8347474, 4640943, 3279701, 5070146, 2041067, 5001469, 1754144, 2153703, 4369072, 1150251, 9502885, 4640943, 1009589, ss219272243, ss231187094, ss238737563, ss555594994, ss649180776, ss976878175, ss1069151947, ss1297398189, ss1428591773, ss1578898541, ss1603603260, ss1646597293, ss1796811429, ss1920111773, ss1968781571, ss2020590115, ss2148633897, ss2624806164, ss2703202628, ss2773921154, ss2989568186, ss3344249185, ss3638262352, ss3657541453, ss3728469279, ss3756808926, ss3783872874, ss3789458943, ss3794331862, ss3827002733, ss3836911427, ss3852352092, ss3897824075, ss4016998124, ss5151533578, ss5329177893, ss5506424543, ss5628819716, ss5820150641, ss5955054336, ss5980057788 NC_000002.11:57992111:G:A NC_000002.12:57764976:G:A (self)
11012033, 59239906, 1807908, 4203351, 14041374, 310904719, 11618114969, ss2230626910, ss3024062006, ss3647042011, ss3703967893, ss3801181848, ss3842327124, ss3947825350, ss4507081840, ss5248193998, ss5448386649, ss5523486098, ss5680204270, ss5802238094, ss5852538966, ss5930520284 NC_000002.12:57764976:G:A NC_000002.12:57764976:G:A (self)
ss21740318 NT_022184.13:36808043:G:A NC_000002.12:57764976:G:A (self)
ss68381649, ss75014509, ss96399477, ss119822694, ss135843750, ss138451245, ss157111499, ss172308806 NT_022184.15:36813998:G:A NC_000002.12:57764976: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 rs13032423

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