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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.

rs13418354

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:193810658 (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=0.348510 (92247/264690, TOPMED)
A=0.338882 (47438/139984, GnomAD)
A=0.36312 (32027/88200, ALFA) (+ 20 more)
A=0.44383 (12541/28256, 14KJPN)
A=0.44362 (7435/16760, 8.3KJPN)
A=0.3791 (2428/6404, 1000G_30x)
A=0.3774 (1890/5008, 1000G)
A=0.3766 (1687/4480, Estonian)
A=0.3672 (1415/3854, ALSPAC)
A=0.3697 (1371/3708, TWINSUK)
A=0.3904 (1144/2930, KOREAN)
A=0.4006 (834/2082, HGDP_Stanford)
A=0.3353 (633/1888, HapMap)
A=0.3592 (658/1832, Korea1K)
A=0.3662 (416/1136, Daghestan)
A=0.344 (343/998, GoNL)
A=0.448 (269/600, NorthernSweden)
G=0.352 (119/338, SGDP_PRJ)
A=0.324 (70/216, Qatari)
A=0.420 (89/212, Vietnamese)
A=0.34 (22/64, Ancient Sardinia)
A=0.15 (6/40, GENOME_DK)
G=0.42 (16/38, 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 88200 G=0.63688 A=0.36312
European Sub 71596 G=0.63578 A=0.36422
African Sub 7360 G=0.7365 A=0.2635
African Others Sub 264 G=0.742 A=0.258
African American Sub 7096 G=0.7363 A=0.2637
Asian Sub 204 G=0.525 A=0.475
East Asian Sub 162 G=0.512 A=0.488
Other Asian Sub 42 G=0.57 A=0.43
Latin American 1 Sub 268 G=0.631 A=0.369
Latin American 2 Sub 1316 G=0.5304 A=0.4696
South Asian Sub 4962 G=0.5395 A=0.4605
Other Sub 2494 G=0.6343 A=0.3657


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=0.651490 A=0.348510
gnomAD - Genomes Global Study-wide 139984 G=0.661118 A=0.338882
gnomAD - Genomes European Sub 75810 G=0.63751 A=0.36249
gnomAD - Genomes African Sub 41950 G=0.73924 A=0.26076
gnomAD - Genomes American Sub 13636 G=0.55243 A=0.44757
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.7312 A=0.2688
gnomAD - Genomes East Asian Sub 3112 G=0.6031 A=0.3969
gnomAD - Genomes Other Sub 2154 G=0.6342 A=0.3658
Allele Frequency Aggregator Total Global 88200 G=0.63688 A=0.36312
Allele Frequency Aggregator European Sub 71596 G=0.63578 A=0.36422
Allele Frequency Aggregator African Sub 7360 G=0.7365 A=0.2635
Allele Frequency Aggregator South Asian Sub 4962 G=0.5395 A=0.4605
Allele Frequency Aggregator Other Sub 2494 G=0.6343 A=0.3657
Allele Frequency Aggregator Latin American 2 Sub 1316 G=0.5304 A=0.4696
Allele Frequency Aggregator Latin American 1 Sub 268 G=0.631 A=0.369
Allele Frequency Aggregator Asian Sub 204 G=0.525 A=0.475
14KJPN JAPANESE Study-wide 28256 G=0.55617 A=0.44383
8.3KJPN JAPANESE Study-wide 16760 G=0.55638 A=0.44362
1000Genomes_30x Global Study-wide 6404 G=0.6209 A=0.3791
1000Genomes_30x African Sub 1786 G=0.7564 A=0.2436
1000Genomes_30x Europe Sub 1266 G=0.6501 A=0.3499
1000Genomes_30x South Asian Sub 1202 G=0.5466 A=0.4534
1000Genomes_30x East Asian Sub 1170 G=0.5701 A=0.4299
1000Genomes_30x American Sub 980 G=0.488 A=0.512
1000Genomes Global Study-wide 5008 G=0.6226 A=0.3774
1000Genomes African Sub 1322 G=0.7587 A=0.2413
1000Genomes East Asian Sub 1008 G=0.5714 A=0.4286
1000Genomes Europe Sub 1006 G=0.6511 A=0.3489
1000Genomes South Asian Sub 978 G=0.550 A=0.450
1000Genomes American Sub 694 G=0.499 A=0.501
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6234 A=0.3766
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6328 A=0.3672
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6303 A=0.3697
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6096 A=0.3904
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 G=0.5994 A=0.4006
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 G=0.598 A=0.402
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.556 A=0.444
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.669 A=0.331
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.628 A=0.372
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.653 A=0.347
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.514 A=0.486
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.47 A=0.53
HapMap Global Study-wide 1888 G=0.6647 A=0.3353
HapMap American Sub 770 G=0.612 A=0.388
HapMap African Sub 688 G=0.762 A=0.238
HapMap Asian Sub 254 G=0.583 A=0.417
HapMap Europe Sub 176 G=0.636 A=0.364
Korean Genome Project KOREAN Study-wide 1832 G=0.6408 A=0.3592
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.6338 A=0.3662
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.666 A=0.334
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.660 A=0.340
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.590 A=0.410
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.546 A=0.454
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.52 A=0.48
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.69 A=0.31
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.656 A=0.344
Northern Sweden ACPOP Study-wide 600 G=0.552 A=0.448
SGDP_PRJ Global Study-wide 338 G=0.352 A=0.648
Qatari Global Study-wide 216 G=0.676 A=0.324
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.580 A=0.420
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 64 G=0.66 A=0.34
The Danish reference pan genome Danish Study-wide 40 G=0.85 A=0.15
Siberian Global Study-wide 38 G=0.42 A=0.58
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.193810658G>A
GRCh37.p13 chr 2 NC_000002.11:g.194675382G>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.193810658= NC_000002.12:g.193810658G>A
GRCh37.p13 chr 2 NC_000002.11:g.194675382= NC_000002.11:g.194675382G>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#.

103 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 WUGSC_SSAHASNP ss23094642 Apr 05, 2004 (121)
2 PERLEGEN ss24653758 Sep 20, 2004 (123)
3 ABI ss44254108 Mar 14, 2006 (126)
4 ILLUMINA ss65822033 Oct 15, 2006 (127)
5 ILLUMINA ss67079703 Nov 30, 2006 (127)
6 ILLUMINA ss67411809 Nov 30, 2006 (127)
7 ILLUMINA ss68151128 Dec 12, 2006 (127)
8 ILLUMINA ss70605536 May 24, 2008 (130)
9 ILLUMINA ss71152104 May 17, 2007 (127)
10 ILLUMINA ss75567392 Dec 07, 2007 (129)
11 HGSV ss77741234 Dec 07, 2007 (129)
12 KRIBB_YJKIM ss85321472 Dec 15, 2007 (130)
13 BCMHGSC_JDW ss91494363 Mar 24, 2008 (129)
14 ILLUMINA-UK ss118026176 Feb 14, 2009 (130)
15 ENSEMBL ss138604126 Dec 01, 2009 (131)
16 ENSEMBL ss143063624 Dec 01, 2009 (131)
17 ILLUMINA ss153373352 Dec 01, 2009 (131)
18 GMI ss158138752 Dec 01, 2009 (131)
19 ILLUMINA ss159257015 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss167511384 Jul 04, 2010 (132)
21 ILLUMINA ss172419187 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss205585564 Jul 04, 2010 (132)
23 ILLUMINA ss209085770 Jul 04, 2010 (132)
24 1000GENOMES ss211063764 Jul 14, 2010 (132)
25 1000GENOMES ss219732535 Jul 14, 2010 (132)
26 1000GENOMES ss231528839 Jul 14, 2010 (132)
27 1000GENOMES ss239003616 Jul 15, 2010 (132)
28 GMI ss276844796 May 04, 2012 (137)
29 GMI ss284513434 Apr 25, 2013 (138)
30 PJP ss292452658 May 09, 2011 (134)
31 ILLUMINA ss410905307 Sep 17, 2011 (135)
32 ILLUMINA ss483104439 May 04, 2012 (137)
33 ILLUMINA ss483983818 May 04, 2012 (137)
34 ILLUMINA ss535301727 Sep 08, 2015 (146)
35 TISHKOFF ss556126508 Apr 25, 2013 (138)
36 SSMP ss649790048 Apr 25, 2013 (138)
37 ILLUMINA ss780152572 Sep 08, 2015 (146)
38 ILLUMINA ss781995544 Sep 08, 2015 (146)
39 ILLUMINA ss832769255 Jul 13, 2019 (153)
40 ILLUMINA ss835636193 Sep 08, 2015 (146)
41 EVA-GONL ss977800956 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1069822422 Aug 21, 2014 (142)
43 1000GENOMES ss1301027872 Aug 21, 2014 (142)
44 HAMMER_LAB ss1397316104 Sep 08, 2015 (146)
45 DDI ss1428865378 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1579261226 Apr 01, 2015 (144)
47 EVA_DECODE ss1587249033 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1605466428 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1648460461 Apr 01, 2015 (144)
50 EVA_SVP ss1712519774 Apr 01, 2015 (144)
51 HAMMER_LAB ss1798129589 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1921048967 Feb 12, 2016 (147)
53 GENOMED ss1968988592 Jul 19, 2016 (147)
54 JJLAB ss2021065610 Sep 14, 2016 (149)
55 USC_VALOUEV ss2149130614 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2237844007 Dec 20, 2016 (150)
57 SYSTEMSBIOZJU ss2625036256 Nov 08, 2017 (151)
58 ILLUMINA ss2633721751 Nov 08, 2017 (151)
59 ILLUMINA ss2635099209 Nov 08, 2017 (151)
60 GRF ss2703775062 Nov 08, 2017 (151)
61 GNOMAD ss2784544777 Nov 08, 2017 (151)
62 SWEGEN ss2991107821 Nov 08, 2017 (151)
63 BIOINF_KMB_FNS_UNIBA ss3024293557 Nov 08, 2017 (151)
64 CSHL ss3344674192 Nov 08, 2017 (151)
65 ILLUMINA ss3628253320 Oct 11, 2018 (152)
66 ILLUMINA ss3631682574 Oct 11, 2018 (152)
67 ILLUMINA ss3638309991 Oct 11, 2018 (152)
68 ILLUMINA ss3639158706 Oct 11, 2018 (152)
69 ILLUMINA ss3639883574 Oct 11, 2018 (152)
70 ILLUMINA ss3642146811 Oct 11, 2018 (152)
71 ILLUMINA ss3643275294 Oct 11, 2018 (152)
72 ILLUMINA ss3643931584 Oct 11, 2018 (152)
73 URBANLAB ss3647240593 Oct 11, 2018 (152)
74 ILLUMINA ss3652502814 Oct 11, 2018 (152)
75 EGCUT_WGS ss3658992147 Jul 13, 2019 (153)
76 EVA_DECODE ss3705718186 Jul 13, 2019 (153)
77 ACPOP ss3729238826 Jul 13, 2019 (153)
78 EVA ss3757901574 Jul 13, 2019 (153)
79 PACBIO ss3784109069 Jul 13, 2019 (153)
80 PACBIO ss3789654234 Jul 13, 2019 (153)
81 PACBIO ss3794527393 Jul 13, 2019 (153)
82 KHV_HUMAN_GENOMES ss3802260538 Jul 13, 2019 (153)
83 EVA ss3827428526 Apr 25, 2020 (154)
84 HGDP ss3847646153 Apr 25, 2020 (154)
85 SGDP_PRJ ss3854280236 Apr 25, 2020 (154)
86 KRGDB ss3899953901 Apr 25, 2020 (154)
87 KOGIC ss3949783059 Apr 25, 2020 (154)
88 EVA ss3984944966 Apr 26, 2021 (155)
89 EVA ss4017041575 Apr 26, 2021 (155)
90 TOPMED ss4539113388 Apr 26, 2021 (155)
91 TOMMO_GENOMICS ss5155793879 Apr 26, 2021 (155)
92 1000G_HIGH_COVERAGE ss5251491024 Oct 12, 2022 (156)
93 EVA ss5314797990 Oct 12, 2022 (156)
94 EVA ss5335047763 Oct 12, 2022 (156)
95 HUGCELL_USP ss5451161143 Oct 12, 2022 (156)
96 1000G_HIGH_COVERAGE ss5528558407 Oct 12, 2022 (156)
97 SANFORD_IMAGENETICS ss5630650502 Oct 12, 2022 (156)
98 TOMMO_GENOMICS ss5686469775 Oct 12, 2022 (156)
99 YY_MCH ss5803095126 Oct 12, 2022 (156)
100 EVA ss5821381936 Oct 12, 2022 (156)
101 EVA ss5852893169 Oct 12, 2022 (156)
102 EVA ss5934085591 Oct 12, 2022 (156)
103 EVA ss5956892909 Oct 12, 2022 (156)
104 1000Genomes NC_000002.11 - 194675382 Oct 11, 2018 (152)
105 1000Genomes_30x NC_000002.12 - 193810658 Oct 12, 2022 (156)
106 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 194675382 Oct 11, 2018 (152)
107 Genome-wide autozygosity in Daghestan NC_000002.10 - 194383627 Apr 25, 2020 (154)
108 Genetic variation in the Estonian population NC_000002.11 - 194675382 Oct 11, 2018 (152)
109 The Danish reference pan genome NC_000002.11 - 194675382 Apr 25, 2020 (154)
110 gnomAD - Genomes NC_000002.12 - 193810658 Apr 26, 2021 (155)
111 Genome of the Netherlands Release 5 NC_000002.11 - 194675382 Apr 25, 2020 (154)
112 HGDP-CEPH-db Supplement 1 NC_000002.10 - 194383627 Apr 25, 2020 (154)
113 HapMap NC_000002.12 - 193810658 Apr 25, 2020 (154)
114 KOREAN population from KRGDB NC_000002.11 - 194675382 Apr 25, 2020 (154)
115 Korean Genome Project NC_000002.12 - 193810658 Apr 25, 2020 (154)
116 Northern Sweden NC_000002.11 - 194675382 Jul 13, 2019 (153)
117 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000002.11 - 194675382 Apr 26, 2021 (155)
118 Qatari NC_000002.11 - 194675382 Apr 25, 2020 (154)
119 SGDP_PRJ NC_000002.11 - 194675382 Apr 25, 2020 (154)
120 Siberian NC_000002.11 - 194675382 Apr 25, 2020 (154)
121 8.3KJPN NC_000002.11 - 194675382 Apr 26, 2021 (155)
122 14KJPN NC_000002.12 - 193810658 Oct 12, 2022 (156)
123 TopMed NC_000002.12 - 193810658 Apr 26, 2021 (155)
124 UK 10K study - Twins NC_000002.11 - 194675382 Oct 11, 2018 (152)
125 A Vietnamese Genetic Variation Database NC_000002.11 - 194675382 Jul 13, 2019 (153)
126 ALFA NC_000002.12 - 193810658 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)
rs17440196 Oct 07, 2004 (123)
rs58709792 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77741234, ss3639158706, ss3639883574, ss3643931584 NC_000002.9:194500887:G:A NC_000002.12:193810657:G:A (self)
265932, 324045, ss91494363, ss118026176, ss167511384, ss205585564, ss211063764, ss276844796, ss284513434, ss292452658, ss483983818, ss1397316104, ss1587249033, ss1712519774, ss2635099209, ss3643275294, ss3847646153 NC_000002.10:194383626:G:A NC_000002.12:193810657:G:A (self)
12109179, 6690364, 4730395, 5426165, 2937490, 7131295, 2523691, 170893, 3090897, 6297216, 1646968, 13763186, 6690364, 1458916, ss219732535, ss231528839, ss239003616, ss483104439, ss535301727, ss556126508, ss649790048, ss780152572, ss781995544, ss832769255, ss835636193, ss977800956, ss1069822422, ss1301027872, ss1428865378, ss1579261226, ss1605466428, ss1648460461, ss1798129589, ss1921048967, ss1968988592, ss2021065610, ss2149130614, ss2625036256, ss2633721751, ss2703775062, ss2784544777, ss2991107821, ss3344674192, ss3628253320, ss3631682574, ss3638309991, ss3642146811, ss3652502814, ss3658992147, ss3729238826, ss3757901574, ss3784109069, ss3789654234, ss3794527393, ss3827428526, ss3854280236, ss3899953901, ss3984944966, ss4017041575, ss5155793879, ss5314797990, ss5335047763, ss5630650502, ss5821381936, ss5956892909 NC_000002.11:194675381:G:A NC_000002.12:193810657:G:A (self)
16084342, 86315482, 1980599, 6161060, 20306879, 342936267, 13125536833, ss2237844007, ss3024293557, ss3647240593, ss3705718186, ss3802260538, ss3949783059, ss4539113388, ss5251491024, ss5451161143, ss5528558407, ss5686469775, ss5803095126, ss5852893169, ss5934085591 NC_000002.12:193810657:G:A NC_000002.12:193810657:G:A (self)
ss23094642 NT_005403.14:44884797:G:A NC_000002.12:193810657:G:A (self)
ss24653758, ss44254108, ss65822033, ss67079703, ss67411809, ss68151128, ss70605536, ss71152104, ss75567392, ss85321472, ss138604126, ss143063624, ss153373352, ss158138752, ss159257015, ss172419187, ss209085770, ss410905307 NT_005403.17:44884799:G:A NC_000002.12:193810657: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 rs13418354

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