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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.

rs156688

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:127212583 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.307707 (81447/264690, TOPMED)
G=0.285292 (29453/103238, GnomAD)
G=0.23996 (14179/59088, ALFA) (+ 15 more)
A=0.48785 (10841/22222, 14KJPN)
A=0.48353 (6210/12843, 8.3KJPN)
G=0.4152 (1995/4805, 1000G_30x)
G=0.4188 (1581/3775, 1000G)
G=0.1953 (724/3708, TWINSUK)
A=0.4594 (1346/2930, KOREAN)
G=0.2101 (607/2889, ALSPAC)
G=0.4009 (833/2078, HGDP_Stanford)
G=0.4115 (772/1876, HapMap)
A=0.162 (43/266, SGDP_PRJ)
G=0.231 (25/108, Qatari)
A=0.43 (20/47, Vietnamese)
G=0.28 (11/40, GENOME_DK)
G=0.33 (8/24, Ancient Sardinia)
A=0.21 (5/24, 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 59088 A=0.76004 G=0.23996
European Sub 46804 A=0.80175 G=0.19825
African Sub 4478 A=0.5945 G=0.4055
African Others Sub 170 A=0.500 G=0.500
African American Sub 4308 A=0.5982 G=0.4018
Asian Sub 190 A=0.474 G=0.526
East Asian Sub 148 A=0.453 G=0.547
Other Asian Sub 42 A=0.55 G=0.45
Latin American 1 Sub 254 A=0.732 G=0.268
Latin American 2 Sub 1232 A=0.6323 G=0.3677
South Asian Sub 4948 A=0.5760 G=0.4240
Other Sub 1182 A=0.6912 G=0.3088


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 A=0.692293 G=0.307707
gnomAD - Genomes Global Study-wide 103238 A=0.714708 G=0.285292
gnomAD - Genomes European Sub 56782 A=0.79347 G=0.20653
gnomAD - Genomes African Sub 31050 A=0.60097 G=0.39903
gnomAD - Genomes American Sub 9171 A=0.6740 G=0.3260
gnomAD - Genomes Ashkenazi Jewish Sub 2506 A=0.7837 G=0.2163
gnomAD - Genomes East Asian Sub 2180 A=0.3982 G=0.6018
gnomAD - Genomes Other Sub 1549 A=0.6824 G=0.3176
Allele Frequency Aggregator Total Global 59088 A=0.76004 G=0.23996
Allele Frequency Aggregator European Sub 46804 A=0.80175 G=0.19825
Allele Frequency Aggregator South Asian Sub 4948 A=0.5760 G=0.4240
Allele Frequency Aggregator African Sub 4478 A=0.5945 G=0.4055
Allele Frequency Aggregator Latin American 2 Sub 1232 A=0.6323 G=0.3677
Allele Frequency Aggregator Other Sub 1182 A=0.6912 G=0.3088
Allele Frequency Aggregator Latin American 1 Sub 254 A=0.732 G=0.268
Allele Frequency Aggregator Asian Sub 190 A=0.474 G=0.526
14KJPN JAPANESE Study-wide 22222 A=0.48785 G=0.51215
8.3KJPN JAPANESE Study-wide 12843 A=0.48353 G=0.51647
1000Genomes_30x Global Study-wide 4805 A=0.5848 G=0.4152
1000Genomes_30x African Sub 1328 A=0.5324 G=0.4676
1000Genomes_30x Europe Sub 961 A=0.824 G=0.176
1000Genomes_30x South Asian Sub 883 A=0.520 G=0.480
1000Genomes_30x East Asian Sub 878 A=0.407 G=0.593
1000Genomes_30x American Sub 755 A=0.656 G=0.344
1000Genomes Global Study-wide 3775 A=0.5812 G=0.4188
1000Genomes African Sub 1003 A=0.5344 G=0.4656
1000Genomes Europe Sub 766 A=0.819 G=0.181
1000Genomes East Asian Sub 764 A=0.415 G=0.585
1000Genomes South Asian Sub 718 A=0.517 G=0.483
1000Genomes American Sub 524 A=0.655 G=0.345
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8047 G=0.1953
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.4594 G=0.5406
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 2889 A=0.7899 G=0.2101
HGDP-CEPH-db Supplement 1 Global Study-wide 2078 A=0.5991 G=0.4009
HGDP-CEPH-db Supplement 1 Est_Asia Sub 466 A=0.337 G=0.663
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.580 G=0.420
HGDP-CEPH-db Supplement 1 Middle_Est Sub 348 A=0.810 G=0.190
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.797 G=0.203
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.682 G=0.318
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.417 G=0.583
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.78 G=0.22
HapMap Global Study-wide 1876 A=0.5885 G=0.4115
HapMap American Sub 764 A=0.609 G=0.391
HapMap African Sub 686 A=0.542 G=0.458
HapMap Asian Sub 250 A=0.524 G=0.476
HapMap Europe Sub 176 A=0.773 G=0.227
SGDP_PRJ Global Study-wide 266 A=0.162 G=0.838
Qatari Global Study-wide 108 A=0.769 G=0.231
A Vietnamese Genetic Variation Database Global Study-wide 47 A=0.43 G=0.57
The Danish reference pan genome Danish Study-wide 40 A=0.72 G=0.28
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 24 A=0.67 G=0.33
Siberian Global Study-wide 24 A=0.21 G=0.79
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 X NC_000023.11:g.127212583A>G
GRCh37.p13 chr X NC_000023.10:g.126346566A>G
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 A= G
GRCh38.p14 chr X NC_000023.11:g.127212583= NC_000023.11:g.127212583A>G
GRCh37.p13 chr X NC_000023.10:g.126346566= NC_000023.10:g.126346566A>G
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#.

78 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss266466 Jul 12, 2000 (79)
2 KWOK ss358548 Jul 12, 2000 (79)
3 KWOK ss363056 Jul 12, 2000 (87)
4 SC_JCM ss532993 Jul 16, 2000 (87)
5 KWOK ss2002917 Oct 18, 2000 (87)
6 KWOK ss2045555 Oct 18, 2000 (87)
7 SC_JCM ss2509790 Nov 08, 2000 (89)
8 SC_SNP ss8211424 Apr 21, 2003 (114)
9 SC_SNP ss8530711 Jul 11, 2003 (116)
10 BCM_SSAHASNP ss10566039 Jul 11, 2003 (116)
11 PERLEGEN ss24233497 Sep 20, 2004 (123)
12 ILLUMINA ss65809075 Oct 16, 2006 (127)
13 ILLUMINA ss67135974 Dec 02, 2006 (127)
14 ILLUMINA ss67476163 Dec 02, 2006 (127)
15 ILLUMINA ss68159411 Dec 12, 2006 (127)
16 ILLUMINA ss70633934 May 26, 2008 (130)
17 ILLUMINA ss71184264 May 18, 2007 (127)
18 ILLUMINA ss75885427 Dec 06, 2007 (129)
19 KRIBB_YJKIM ss83370504 Dec 16, 2007 (130)
20 HGSV ss85529128 Dec 16, 2007 (130)
21 BGI ss105764254 Feb 06, 2009 (130)
22 1000GENOMES ss115152900 Jan 25, 2009 (130)
23 ILLUMINA-UK ss115652990 Feb 14, 2009 (130)
24 ENSEMBL ss144812529 Dec 01, 2009 (131)
25 ILLUMINA ss153521335 Dec 01, 2009 (131)
26 GMI ss157715854 Dec 01, 2009 (131)
27 ILLUMINA ss159286239 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss165612337 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss166529394 Jul 04, 2010 (132)
30 ILLUMINA ss172585787 Jul 04, 2010 (132)
31 GMI ss283866382 May 04, 2012 (137)
32 PJP ss294505557 May 09, 2011 (134)
33 1000GENOMES ss341790468 May 09, 2011 (134)
34 ILLUMINA ss536895990 Sep 08, 2015 (146)
35 TISHKOFF ss567038466 Apr 25, 2013 (138)
36 SSMP ss663013604 Apr 25, 2013 (138)
37 ILLUMINA ss832798365 Jul 14, 2019 (153)
38 JMKIDD_LAB ss1083127317 Aug 21, 2014 (142)
39 DDI ss1432118753 Apr 01, 2015 (144)
40 1000GENOMES ss1556103680 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1583505740 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1641506457 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1684500490 Apr 01, 2015 (144)
44 WEILL_CORNELL_DGM ss1939713165 Feb 12, 2016 (147)
45 GENOMED ss1971433782 Jul 19, 2016 (147)
46 USC_VALOUEV ss2159235082 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2320246340 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2629773756 Nov 08, 2017 (151)
49 GRF ss2710352648 Nov 08, 2017 (151)
50 GNOMAD ss2983235743 Nov 08, 2017 (151)
51 SWEGEN ss3020601313 Nov 08, 2017 (151)
52 BIOINF_KMB_FNS_UNIBA ss3029117145 Nov 08, 2017 (151)
53 ILLUMINA ss3630482080 Oct 12, 2018 (152)
54 ILLUMINA ss3638876339 Oct 12, 2018 (152)
55 ILLUMINA ss3639437582 Oct 12, 2018 (152)
56 ILLUMINA ss3640008093 Oct 12, 2018 (152)
57 ILLUMINA ss3643800023 Oct 12, 2018 (152)
58 ILLUMINA ss3644050323 Oct 12, 2018 (152)
59 EVA ss3770605144 Jul 14, 2019 (153)
60 PACBIO ss3788952179 Jul 14, 2019 (153)
61 PACBIO ss3793819959 Jul 14, 2019 (153)
62 PACBIO ss3798704948 Jul 14, 2019 (153)
63 KHV_HUMAN_GENOMES ss3823382070 Jul 14, 2019 (153)
64 EVA ss3836311410 Apr 27, 2020 (154)
65 HGDP ss3847979380 Apr 27, 2020 (154)
66 SGDP_PRJ ss3892235701 Apr 27, 2020 (154)
67 KRGDB ss3942924691 Apr 27, 2020 (154)
68 EVA ss3985964906 Apr 26, 2021 (155)
69 TOPMED ss5136863381 Apr 26, 2021 (155)
70 TOMMO_GENOMICS ss5236212758 Apr 26, 2021 (155)
71 1000G_HIGH_COVERAGE ss5313883991 Oct 16, 2022 (156)
72 HUGCELL_USP ss5505298331 Oct 16, 2022 (156)
73 1000G_HIGH_COVERAGE ss5622946877 Oct 16, 2022 (156)
74 SANFORD_IMAGENETICS ss5665865990 Oct 16, 2022 (156)
75 TOMMO_GENOMICS ss5798570590 Oct 16, 2022 (156)
76 YY_MCH ss5819345503 Oct 16, 2022 (156)
77 EVA ss5857196973 Oct 16, 2022 (156)
78 EVA ss5978979365 Oct 16, 2022 (156)
79 1000Genomes NC_000023.10 - 126346566 Oct 12, 2018 (152)
80 1000Genomes_30x NC_000023.11 - 127212583 Oct 16, 2022 (156)
81 The Avon Longitudinal Study of Parents and Children NC_000023.10 - 126346566 Oct 12, 2018 (152)
82 The Danish reference pan genome NC_000023.10 - 126346566 Apr 27, 2020 (154)
83 gnomAD - Genomes NC_000023.11 - 127212583 Apr 26, 2021 (155)
84 HGDP-CEPH-db Supplement 1 NC_000023.9 - 126174247 Apr 27, 2020 (154)
85 HapMap NC_000023.11 - 127212583 Apr 27, 2020 (154)
86 KOREAN population from KRGDB NC_000023.10 - 126346566 Apr 27, 2020 (154)
87 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000023.10 - 126346566 Apr 26, 2021 (155)
88 Qatari NC_000023.10 - 126346566 Apr 27, 2020 (154)
89 SGDP_PRJ NC_000023.10 - 126346566 Apr 27, 2020 (154)
90 Siberian NC_000023.10 - 126346566 Apr 27, 2020 (154)
91 8.3KJPN NC_000023.10 - 126346566 Apr 26, 2021 (155)
92 14KJPN NC_000023.11 - 127212583 Oct 16, 2022 (156)
93 TopMed NC_000023.11 - 127212583 Apr 26, 2021 (155)
94 UK 10K study - Twins NC_000023.10 - 126346566 Oct 12, 2018 (152)
95 A Vietnamese Genetic Variation Database NC_000023.10 - 126346566 Jul 14, 2019 (153)
96 ALFA NC_000023.11 - 127212583 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)
rs279772 Oct 23, 2000 (87)
rs17336487 Oct 07, 2004 (123)
rs61419552 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85529128, ss3639437582, ss3640008093, ss3644050323 NC_000023.8:126072100:A:G NC_000023.11:127212582:A:G (self)
657272, ss115152900, ss115652990, ss165612337, ss166529394, ss283866382, ss294505557, ss3643800023, ss3847979380 NC_000023.9:126174246:A:G NC_000023.11:127212582:A:G (self)
84062693, 46305940, 9670677, 50102085, 1190833, 21755087, 44252681, 11751436, 94182065, 46305940, 10180217, ss341790468, ss536895990, ss567038466, ss663013604, ss832798365, ss1083127317, ss1432118753, ss1556103680, ss1583505740, ss1641506457, ss1684500490, ss1939713165, ss1971433782, ss2159235082, ss2629773756, ss2710352648, ss2983235743, ss3020601313, ss3630482080, ss3638876339, ss3770605144, ss3788952179, ss3793819959, ss3798704948, ss3836311410, ss3892235701, ss3942924691, ss3985964906, ss5236212758, ss5665865990, ss5978979365 NC_000023.10:126346565:A:G NC_000023.11:127212582:A:G (self)
110472812, 591006265, 4034370, 132407694, 700469738, 14299110674, ss2320246340, ss3029117145, ss3823382070, ss5136863381, ss5313883991, ss5505298331, ss5622946877, ss5798570590, ss5819345503, ss5857196973 NC_000023.11:127212582:A:G NC_000023.11:127212582:A:G (self)
ss8530711, ss10566039 NT_011786.13:1915060:A:G NC_000023.11:127212582:A:G (self)
ss266466, ss358548, ss363056, ss532993, ss2002917, ss2045555, ss2509790, ss8211424, ss24233497, ss65809075, ss67135974, ss67476163, ss68159411, ss70633934, ss71184264, ss75885427, ss83370504, ss105764254, ss144812529, ss153521335, ss157715854, ss159286239, ss172585787 NT_011786.16:10614275:A:G NC_000023.11:127212582:A:G (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 rs156688

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