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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.

rs5910185

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:117663481 (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=0.355117 (93996/264690, TOPMED)
G=0.370781 (38331/103379, GnomAD)
G=0.39005 (10057/25784, ALFA) (+ 14 more)
G=0.12425 (2761/22222, 14KJPN)
G=0.12638 (1623/12842, 8.3KJPN)
G=0.3259 (1566/4805, 1000G_30x)
G=0.3224 (1217/3775, 1000G)
G=0.4121 (1528/3708, TWINSUK)
G=0.1744 (511/2930, KOREAN)
G=0.4143 (1197/2889, ALSPAC)
G=0.3252 (610/1876, HapMap)
G=0.3342 (379/1134, Daghestan)
A=0.165 (36/218, SGDP_PRJ)
G=0.278 (30/108, Qatari)
G=0.21 (10/47, Vietnamese)
G=0.45 (18/40, GENOME_DK)
A=0.15 (4/26, 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 25784 A=0.60995 G=0.39005 0.478669 0.258765 0.262566 32
European Sub 17346 A=0.58175 G=0.41825 0.467658 0.304162 0.228179 32
African Sub 6194 A=0.6464 G=0.3536 0.459154 0.16629 0.374556 32
African Others Sub 208 A=0.678 G=0.322 0.5 0.144231 0.355769 2
African American Sub 5986 A=0.6453 G=0.3547 0.457735 0.167056 0.375209 32
Asian Sub 162 A=0.728 G=0.272 0.592593 0.135802 0.271605 5
East Asian Sub 104 A=0.702 G=0.298 0.576923 0.173077 0.25 5
Other Asian Sub 58 A=0.78 G=0.22 0.62069 0.068966 0.310345 0
Latin American 1 Sub 212 A=0.613 G=0.387 0.462264 0.235849 0.301887 8
Latin American 2 Sub 754 A=0.816 G=0.184 0.737401 0.106101 0.156499 32
South Asian Sub 112 A=0.598 G=0.402 0.482143 0.285714 0.232143 9
Other Sub 1004 A=0.6992 G=0.3008 0.579681 0.181275 0.239044 32


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=0.644883 G=0.355117
gnomAD - Genomes Global Study-wide 103379 A=0.629219 G=0.370781
gnomAD - Genomes European Sub 56783 A=0.59541 G=0.40459
gnomAD - Genomes African Sub 31079 A=0.64983 G=0.35017
gnomAD - Genomes American Sub 9231 A=0.7184 G=0.2816
gnomAD - Genomes Ashkenazi Jewish Sub 2515 A=0.6561 G=0.3439
gnomAD - Genomes East Asian Sub 2208 A=0.7917 G=0.2083
gnomAD - Genomes Other Sub 1563 A=0.6481 G=0.3519
Allele Frequency Aggregator Total Global 25784 A=0.60995 G=0.39005
Allele Frequency Aggregator European Sub 17346 A=0.58175 G=0.41825
Allele Frequency Aggregator African Sub 6194 A=0.6464 G=0.3536
Allele Frequency Aggregator Other Sub 1004 A=0.6992 G=0.3008
Allele Frequency Aggregator Latin American 2 Sub 754 A=0.816 G=0.184
Allele Frequency Aggregator Latin American 1 Sub 212 A=0.613 G=0.387
Allele Frequency Aggregator Asian Sub 162 A=0.728 G=0.272
Allele Frequency Aggregator South Asian Sub 112 A=0.598 G=0.402
14KJPN JAPANESE Study-wide 22222 A=0.87575 G=0.12425
8.3KJPN JAPANESE Study-wide 12842 A=0.87362 G=0.12638
1000Genomes_30x Global Study-wide 4805 A=0.6741 G=0.3259
1000Genomes_30x African Sub 1328 A=0.6265 G=0.3735
1000Genomes_30x Europe Sub 961 A=0.584 G=0.416
1000Genomes_30x South Asian Sub 883 A=0.631 G=0.369
1000Genomes_30x East Asian Sub 878 A=0.778 G=0.222
1000Genomes_30x American Sub 755 A=0.803 G=0.197
1000Genomes Global Study-wide 3775 A=0.6776 G=0.3224
1000Genomes African Sub 1003 A=0.6411 G=0.3589
1000Genomes Europe Sub 766 A=0.582 G=0.418
1000Genomes East Asian Sub 764 A=0.777 G=0.223
1000Genomes South Asian Sub 718 A=0.638 G=0.362
1000Genomes American Sub 524 A=0.796 G=0.204
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5879 G=0.4121
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.8256 G=0.1744
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 2889 A=0.5857 G=0.4143
HapMap Global Study-wide 1876 A=0.6748 G=0.3252
HapMap American Sub 768 A=0.655 G=0.345
HapMap African Sub 684 A=0.645 G=0.355
HapMap Asian Sub 252 A=0.817 G=0.183
HapMap Europe Sub 172 A=0.674 G=0.326
Genome-wide autozygosity in Daghestan Global Study-wide 1134 A=0.6658 G=0.3342
Genome-wide autozygosity in Daghestan Daghestan Sub 626 A=0.673 G=0.327
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.667 G=0.333
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.721 G=0.279
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.611 G=0.389
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.73 G=0.27
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.33 G=0.67
SGDP_PRJ Global Study-wide 218 A=0.165 G=0.835
Qatari Global Study-wide 108 A=0.722 G=0.278
A Vietnamese Genetic Variation Database Global Study-wide 47 A=0.79 G=0.21
The Danish reference pan genome Danish Study-wide 40 A=0.55 G=0.45
Siberian Global Study-wide 26 A=0.15 G=0.85
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.117663481A>G
GRCh37.p13 chr X NC_000023.10:g.116797444A>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.117663481= NC_000023.11:g.117663481A>G
GRCh37.p13 chr X NC_000023.10:g.116797444= NC_000023.10:g.116797444A>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#.

59 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss8182801 Apr 21, 2003 (114)
2 SC_SNP ss8550114 Jul 11, 2003 (117)
3 PERLEGEN ss14925084 Dec 05, 2003 (119)
4 PERLEGEN ss24724408 Sep 20, 2004 (123)
5 ABI ss43542828 Mar 14, 2006 (126)
6 AFFY ss65978481 Nov 30, 2006 (127)
7 AFFY ss66238464 Nov 30, 2006 (127)
8 AFFY ss76384137 Dec 05, 2007 (129)
9 KRIBB_YJKIM ss82187796 Dec 15, 2007 (130)
10 BCMHGSC_JDW ss94380843 Mar 25, 2008 (129)
11 1000GENOMES ss113005855 Jan 25, 2009 (130)
12 1000GENOMES ss115086674 Jan 25, 2009 (130)
13 ENSEMBL ss134026532 Dec 01, 2009 (131)
14 ENSEMBL ss144783875 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss163256843 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss165530583 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss166488451 Jul 04, 2010 (132)
18 AFFY ss173438790 Jul 04, 2010 (132)
19 GMI ss283849597 May 04, 2012 (137)
20 PJP ss294497241 May 09, 2011 (134)
21 1000GENOMES ss341746349 May 09, 2011 (134)
22 TISHKOFF ss567011201 Apr 25, 2013 (138)
23 SSMP ss662986266 Apr 25, 2013 (138)
24 JMKIDD_LAB ss1083095449 Aug 21, 2014 (142)
25 HAMMER_LAB ss1397798551 Sep 08, 2015 (146)
26 1000GENOMES ss1555890566 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1583488665 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1641407569 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1684401602 Apr 01, 2015 (144)
30 WEILL_CORNELL_DGM ss1939661021 Feb 12, 2016 (147)
31 USC_VALOUEV ss2159208712 Dec 20, 2016 (150)
32 HUMAN_LONGEVITY ss2319856616 Dec 20, 2016 (150)
33 SYSTEMSBIOZJU ss2629763023 Nov 08, 2017 (151)
34 GRF ss2710327684 Nov 08, 2017 (151)
35 GNOMAD ss2982697011 Nov 08, 2017 (151)
36 SWEGEN ss3020519216 Nov 08, 2017 (151)
37 BIOINF_KMB_FNS_UNIBA ss3029105382 Nov 08, 2017 (151)
38 CSHL ss3352996426 Nov 08, 2017 (151)
39 URBANLAB ss3651323692 Oct 12, 2018 (152)
40 EVA ss3770547415 Jul 14, 2019 (153)
41 PACBIO ss3788944527 Jul 14, 2019 (153)
42 PACBIO ss3793811764 Jul 14, 2019 (153)
43 PACBIO ss3798696786 Jul 14, 2019 (153)
44 KHV_HUMAN_GENOMES ss3823326662 Jul 14, 2019 (153)
45 EVA ss3836289502 Apr 27, 2020 (154)
46 EVA ss3841748406 Apr 27, 2020 (154)
47 EVA ss3847282483 Apr 27, 2020 (154)
48 SGDP_PRJ ss3892128916 Apr 27, 2020 (154)
49 KRGDB ss3942799686 Apr 27, 2020 (154)
50 TOPMED ss5135193519 Apr 26, 2021 (155)
51 TOMMO_GENOMICS ss5235999524 Apr 26, 2021 (155)
52 1000G_HIGH_COVERAGE ss5313707843 Oct 17, 2022 (156)
53 HUGCELL_USP ss5505145078 Oct 17, 2022 (156)
54 1000G_HIGH_COVERAGE ss5622677659 Oct 17, 2022 (156)
55 SANFORD_IMAGENETICS ss5665779371 Oct 17, 2022 (156)
56 TOMMO_GENOMICS ss5798295608 Oct 17, 2022 (156)
57 YY_MCH ss5819306144 Oct 17, 2022 (156)
58 EVA ss5857178923 Oct 17, 2022 (156)
59 EVA ss5978880118 Oct 17, 2022 (156)
60 1000Genomes NC_000023.10 - 116797444 Oct 12, 2018 (152)
61 1000Genomes_30x NC_000023.11 - 117663481 Oct 17, 2022 (156)
62 The Avon Longitudinal Study of Parents and Children NC_000023.10 - 116797444 Oct 12, 2018 (152)
63 Genome-wide autozygosity in Daghestan NC_000023.9 - 116681472 Apr 27, 2020 (154)
64 The Danish reference pan genome NC_000023.10 - 116797444 Apr 27, 2020 (154)
65 gnomAD - Genomes NC_000023.11 - 117663481 Apr 26, 2021 (155)
66 HapMap NC_000023.11 - 117663481 Apr 27, 2020 (154)
67 KOREAN population from KRGDB NC_000023.10 - 116797444 Apr 27, 2020 (154)
68 Qatari NC_000023.10 - 116797444 Apr 27, 2020 (154)
69 SGDP_PRJ NC_000023.10 - 116797444 Apr 27, 2020 (154)
70 Siberian NC_000023.10 - 116797444 Apr 27, 2020 (154)
71 8.3KJPN NC_000023.10 - 116797444 Apr 26, 2021 (155)
72 14KJPN NC_000023.11 - 117663481 Oct 17, 2022 (156)
73 TopMed NC_000023.11 - 117663481 Apr 26, 2021 (155)
74 UK 10K study - Twins NC_000023.10 - 116797444 Oct 12, 2018 (152)
75 A Vietnamese Genetic Variation Database NC_000023.10 - 116797444 Jul 14, 2019 (153)
76 ALFA NC_000023.11 - 117663481 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)
rs6645837 Aug 27, 2003 (117)
rs17243249 Oct 07, 2004 (123)
rs60191808 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
551227, ss94380843, ss113005855, ss115086674, ss163256843, ss165530583, ss166488451, ss283849597, ss294497241, ss1397798551 NC_000023.9:116681471:A:G NC_000023.11:117663480:A:G (self)
83851765, 46196559, 9653602, 49977080, 21702943, 44145896, 11725066, 93968831, 46196559, 10157735, ss341746349, ss567011201, ss662986266, ss1083095449, ss1555890566, ss1583488665, ss1641407569, ss1684401602, ss1939661021, ss2159208712, ss2629763023, ss2710327684, ss2982697011, ss3020519216, ss3352996426, ss3770547415, ss3788944527, ss3793811764, ss3798696786, ss3836289502, ss3841748406, ss3892128916, ss3942799686, ss5235999524, ss5665779371, ss5978880118 NC_000023.10:116797443:A:G NC_000023.11:117663480:A:G (self)
110203594, 589749096, 4025967, 132132712, 698799876, 14740383865, ss2319856616, ss3029105382, ss3651323692, ss3823326662, ss3847282483, ss5135193519, ss5313707843, ss5505145078, ss5622677659, ss5798295608, ss5819306144, ss5857178923 NC_000023.11:117663480:A:G NC_000023.11:117663480:A:G (self)
ss8182801, ss14925084, ss24724408, ss43542828, ss65978481, ss66238464, ss76384137, ss82187796, ss134026532, ss144783875, ss173438790 NT_011786.16:1065153:A:G NC_000023.11:117663480:A:G (self)
ss8550114 NT_077819.2:1057386:A:G NC_000023.11:117663480: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 rs5910185

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