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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.

rs1534957

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:176851921 (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=0.202033 (53476/264690, TOPMED)
A=0.202909 (28404/139984, GnomAD)
A=0.19668 (13653/69418, ALFA) (+ 19 more)
A=0.09350 (2642/28256, 14KJPN)
A=0.09278 (1555/16760, 8.3KJPN)
A=0.1844 (1181/6404, 1000G_30x)
A=0.1749 (876/5008, 1000G)
A=0.1641 (735/4480, Estonian)
A=0.2055 (792/3854, ALSPAC)
A=0.2055 (762/3708, TWINSUK)
A=0.0461 (135/2930, KOREAN)
A=0.1339 (279/2084, HGDP_Stanford)
A=0.1739 (329/1892, HapMap)
A=0.0426 (78/1832, Korea1K)
A=0.235 (235/998, GoNL)
A=0.147 (88/600, NorthernSweden)
A=0.176 (38/216, Qatari)
A=0.047 (10/214, Vietnamese)
G=0.438 (56/128, SGDP_PRJ)
A=0.29 (24/84, Ancient Sardinia)
A=0.17 (7/40, GENOME_DK)
G=0.43 (6/14, 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 69418 G=0.80332 A=0.19668
European Sub 56804 G=0.80315 A=0.19685
African Sub 4528 G=0.7447 A=0.2553
African Others Sub 170 G=0.741 A=0.259
African American Sub 4358 G=0.7448 A=0.2552
Asian Sub 192 G=0.917 A=0.083
East Asian Sub 150 G=0.927 A=0.073
Other Asian Sub 42 G=0.88 A=0.12
Latin American 1 Sub 254 G=0.799 A=0.201
Latin American 2 Sub 1232 G=0.8839 A=0.1161
South Asian Sub 4954 G=0.8294 A=0.1706
Other Sub 1454 G=0.8212 A=0.1788


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=0.797967 A=0.202033
gnomAD - Genomes Global Study-wide 139984 G=0.797091 A=0.202909
gnomAD - Genomes European Sub 75856 G=0.80790 A=0.19210
gnomAD - Genomes African Sub 41900 G=0.74811 A=0.25189
gnomAD - Genomes American Sub 13636 G=0.84592 A=0.15408
gnomAD - Genomes Ashkenazi Jewish Sub 3316 G=0.8287 A=0.1713
gnomAD - Genomes East Asian Sub 3132 G=0.9460 A=0.0540
gnomAD - Genomes Other Sub 2144 G=0.7948 A=0.2052
Allele Frequency Aggregator Total Global 69418 G=0.80332 A=0.19668
Allele Frequency Aggregator European Sub 56804 G=0.80315 A=0.19685
Allele Frequency Aggregator South Asian Sub 4954 G=0.8294 A=0.1706
Allele Frequency Aggregator African Sub 4528 G=0.7447 A=0.2553
Allele Frequency Aggregator Other Sub 1454 G=0.8212 A=0.1788
Allele Frequency Aggregator Latin American 2 Sub 1232 G=0.8839 A=0.1161
Allele Frequency Aggregator Latin American 1 Sub 254 G=0.799 A=0.201
Allele Frequency Aggregator Asian Sub 192 G=0.917 A=0.083
14KJPN JAPANESE Study-wide 28256 G=0.90650 A=0.09350
8.3KJPN JAPANESE Study-wide 16760 G=0.90722 A=0.09278
1000Genomes_30x Global Study-wide 6404 G=0.8156 A=0.1844
1000Genomes_30x African Sub 1786 G=0.7480 A=0.2520
1000Genomes_30x Europe Sub 1266 G=0.7883 A=0.2117
1000Genomes_30x South Asian Sub 1202 G=0.8045 A=0.1955
1000Genomes_30x East Asian Sub 1170 G=0.9470 A=0.0530
1000Genomes_30x American Sub 980 G=0.831 A=0.169
1000Genomes Global Study-wide 5008 G=0.8251 A=0.1749
1000Genomes African Sub 1322 G=0.7625 A=0.2375
1000Genomes East Asian Sub 1008 G=0.9484 A=0.0516
1000Genomes Europe Sub 1006 G=0.7942 A=0.2058
1000Genomes South Asian Sub 978 G=0.803 A=0.197
1000Genomes American Sub 694 G=0.841 A=0.159
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8359 A=0.1641
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7945 A=0.2055
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7945 A=0.2055
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.9539 A=0.0461
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.8661 A=0.1339
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.945 A=0.055
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.833 A=0.167
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.774 A=0.226
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.806 A=0.194
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.822 A=0.178
HGDP-CEPH-db Supplement 1 America Sub 216 G=1.000 A=0.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=1.00 A=0.00
HapMap Global Study-wide 1892 G=0.8261 A=0.1739
HapMap American Sub 770 G=0.803 A=0.197
HapMap African Sub 692 G=0.808 A=0.192
HapMap Asian Sub 254 G=0.933 A=0.067
HapMap Europe Sub 176 G=0.847 A=0.153
Korean Genome Project KOREAN Study-wide 1832 G=0.9574 A=0.0426
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.765 A=0.235
Northern Sweden ACPOP Study-wide 600 G=0.853 A=0.147
Qatari Global Study-wide 216 G=0.824 A=0.176
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.953 A=0.047
SGDP_PRJ Global Study-wide 128 G=0.438 A=0.562
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 84 G=0.71 A=0.29
The Danish reference pan genome Danish Study-wide 40 G=0.82 A=0.17
Siberian Global Study-wide 14 G=0.43 A=0.57
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 1 NC_000001.11:g.176851921G>A
GRCh37.p13 chr 1 NC_000001.10:g.176821057G>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 1 NC_000001.11:g.176851921= NC_000001.11:g.176851921G>A
GRCh37.p13 chr 1 NC_000001.10:g.176821057= NC_000001.10:g.176821057G>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#.

71 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2376173 Oct 23, 2000 (88)
2 SC_SNP ss15411490 Feb 27, 2004 (120)
3 ABI ss43846791 Mar 15, 2006 (126)
4 ILLUMINA ss70629538 May 23, 2008 (130)
5 ILLUMINA ss71179390 May 16, 2007 (127)
6 ILLUMINA ss74957787 Dec 07, 2007 (129)
7 HGSV ss80344067 Dec 14, 2007 (130)
8 BCMHGSC_JDW ss87879288 Mar 23, 2008 (129)
9 1000GENOMES ss111383804 Jan 25, 2009 (130)
10 ILLUMINA-UK ss119104072 Feb 15, 2009 (130)
11 ENSEMBL ss138109333 Dec 01, 2009 (131)
12 ILLUMINA ss153498061 Dec 01, 2009 (131)
13 ILLUMINA ss159281695 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss164487838 Jul 04, 2010 (132)
15 ILLUMINA ss172564259 Jul 04, 2010 (132)
16 BUSHMAN ss199278997 Jul 04, 2010 (132)
17 BCM-HGSC-SUB ss205203961 Jul 04, 2010 (132)
18 1000GENOMES ss218733239 Jul 14, 2010 (132)
19 1000GENOMES ss230793003 Jul 14, 2010 (132)
20 1000GENOMES ss238427333 Jul 15, 2010 (132)
21 GMI ss284180003 Apr 25, 2013 (138)
22 PJP ss290669191 May 09, 2011 (134)
23 ILLUMINA ss536889205 Sep 08, 2015 (146)
24 TISHKOFF ss554881447 Apr 25, 2013 (138)
25 SSMP ss648518113 Apr 25, 2013 (138)
26 ILLUMINA ss832793832 Jul 12, 2019 (153)
27 EVA-GONL ss975844446 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1068387975 Aug 21, 2014 (142)
29 1000GENOMES ss1293543514 Aug 21, 2014 (142)
30 DDI ss1426026892 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1574495726 Apr 01, 2015 (144)
32 EVA_DECODE ss1585233093 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1601545096 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1644539129 Apr 01, 2015 (144)
35 EVA_SVP ss1712383808 Apr 01, 2015 (144)
36 WEILL_CORNELL_DGM ss1919082335 Feb 12, 2016 (147)
37 JJLAB ss2020056517 Sep 14, 2016 (149)
38 USC_VALOUEV ss2148084063 Dec 20, 2016 (150)
39 HUMAN_LONGEVITY ss2167800533 Dec 20, 2016 (150)
40 GRF ss2698064664 Nov 08, 2017 (151)
41 GNOMAD ss2763068056 Nov 08, 2017 (151)
42 SWEGEN ss2988001044 Nov 08, 2017 (151)
43 BIOINF_KMB_FNS_UNIBA ss3023787454 Nov 08, 2017 (151)
44 CSHL ss3343783457 Nov 08, 2017 (151)
45 ILLUMINA ss3626247164 Oct 11, 2018 (152)
46 ILLUMINA ss3637798029 Oct 11, 2018 (152)
47 ILLUMINA ss3642806067 Oct 11, 2018 (152)
48 EGCUT_WGS ss3655947614 Jul 12, 2019 (153)
49 EVA_DECODE ss3688082247 Jul 12, 2019 (153)
50 ACPOP ss3727620855 Jul 12, 2019 (153)
51 EVA ss3746997005 Jul 12, 2019 (153)
52 KHV_HUMAN_GENOMES ss3799997932 Jul 12, 2019 (153)
53 EVA ss3826504371 Apr 25, 2020 (154)
54 HGDP ss3847354783 Apr 25, 2020 (154)
55 SGDP_PRJ ss3850325390 Apr 25, 2020 (154)
56 KRGDB ss3895574346 Apr 25, 2020 (154)
57 KOGIC ss3945957171 Apr 25, 2020 (154)
58 EVA ss3984835672 Apr 25, 2021 (155)
59 EVA ss4016947573 Apr 25, 2021 (155)
60 TOPMED ss4473750619 Apr 25, 2021 (155)
61 TOMMO_GENOMICS ss5147180404 Apr 25, 2021 (155)
62 1000G_HIGH_COVERAGE ss5244827959 Oct 12, 2022 (156)
63 EVA ss5323028065 Oct 12, 2022 (156)
64 HUGCELL_USP ss5445361365 Oct 12, 2022 (156)
65 1000G_HIGH_COVERAGE ss5518425878 Oct 12, 2022 (156)
66 SANFORD_IMAGENETICS ss5626897045 Oct 12, 2022 (156)
67 TOMMO_GENOMICS ss5674580437 Oct 12, 2022 (156)
68 YY_MCH ss5801394545 Oct 12, 2022 (156)
69 EVA ss5832878614 Oct 12, 2022 (156)
70 EVA ss5910860123 Oct 12, 2022 (156)
71 EVA ss5938706414 Oct 12, 2022 (156)
72 1000Genomes NC_000001.10 - 176821057 Oct 11, 2018 (152)
73 1000Genomes_30x NC_000001.11 - 176851921 Oct 12, 2022 (156)
74 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 176821057 Oct 11, 2018 (152)
75 Genetic variation in the Estonian population NC_000001.10 - 176821057 Oct 11, 2018 (152)
76 The Danish reference pan genome NC_000001.10 - 176821057 Apr 25, 2020 (154)
77 gnomAD - Genomes NC_000001.11 - 176851921 Apr 25, 2021 (155)
78 Genome of the Netherlands Release 5 NC_000001.10 - 176821057 Apr 25, 2020 (154)
79 HGDP-CEPH-db Supplement 1 NC_000001.9 - 175087680 Apr 25, 2020 (154)
80 HapMap NC_000001.11 - 176851921 Apr 25, 2020 (154)
81 KOREAN population from KRGDB NC_000001.10 - 176821057 Apr 25, 2020 (154)
82 Korean Genome Project NC_000001.11 - 176851921 Apr 25, 2020 (154)
83 Northern Sweden NC_000001.10 - 176821057 Jul 12, 2019 (153)
84 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 176821057 Apr 25, 2021 (155)
85 Qatari NC_000001.10 - 176821057 Apr 25, 2020 (154)
86 SGDP_PRJ NC_000001.10 - 176821057 Apr 25, 2020 (154)
87 Siberian NC_000001.10 - 176821057 Apr 25, 2020 (154)
88 8.3KJPN NC_000001.10 - 176821057 Apr 25, 2021 (155)
89 14KJPN NC_000001.11 - 176851921 Oct 12, 2022 (156)
90 TopMed NC_000001.11 - 176851921 Apr 25, 2021 (155)
91 UK 10K study - Twins NC_000001.10 - 176821057 Oct 11, 2018 (152)
92 A Vietnamese Genetic Variation Database NC_000001.10 - 176821057 Jul 12, 2019 (153)
93 ALFA NC_000001.11 - 176851921 Apr 25, 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)
rs56992468 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80344067 NC_000001.8:173552713:G:A NC_000001.11:176851920:G:A (self)
32675, ss87879288, ss111383804, ss119104072, ss164487838, ss199278997, ss205203961, ss284180003, ss290669191, ss1585233093, ss1712383808, ss3642806067, ss3847354783 NC_000001.9:175087679:G:A NC_000001.11:176851920:G:A (self)
4357004, 2384411, 1685862, 1772244, 1035654, 2751740, 905720, 61599, 1124265, 2342370, 600417, 5149711, 2384411, 511611, ss218733239, ss230793003, ss238427333, ss536889205, ss554881447, ss648518113, ss832793832, ss975844446, ss1068387975, ss1293543514, ss1426026892, ss1574495726, ss1601545096, ss1644539129, ss1919082335, ss2020056517, ss2148084063, ss2698064664, ss2763068056, ss2988001044, ss3343783457, ss3626247164, ss3637798029, ss3655947614, ss3727620855, ss3746997005, ss3826504371, ss3850325390, ss3895574346, ss3984835672, ss4016947573, ss5147180404, ss5323028065, ss5626897045, ss5832878614, ss5938706414 NC_000001.10:176821056:G:A NC_000001.11:176851920:G:A (self)
5951813, 31508915, 209549, 2335172, 8417541, 37356954, 12122462459, ss2167800533, ss3023787454, ss3688082247, ss3799997932, ss3945957171, ss4473750619, ss5244827959, ss5445361365, ss5518425878, ss5674580437, ss5801394545, ss5910860123 NC_000001.11:176851920:G:A NC_000001.11:176851920:G:A (self)
ss15411490 NT_004487.16:5869548:G:A NC_000001.11:176851920:G:A (self)
ss2376173, ss43846791, ss70629538, ss71179390, ss74957787, ss138109333, ss153498061, ss159281695, ss172564259 NT_004487.19:28309698:G:A NC_000001.11:176851920: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 rs1534957

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