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dbSNP Short Genetic Variations

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.

rs636

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chrX:119375063 (GRCh38.p13) 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 / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.460641 (121927/264690, TOPMED)
T=0.466780 (47964/102755, GnomAD)
T=0.42991 (7962/18520, ALFA) (+ 11 more)
T=0.37974 (4877/12843, 8.3KJPN)
T=0.4758 (1796/3775, 1000G)
T=0.3883 (1440/3708, TWINSUK)
T=0.3354 (980/2922, KOREAN)
T=0.3866 (1117/2889, ALSPAC)
T=0.4856 (909/1872, HapMap)
A=0.141 (35/248, SGDP_PRJ)
T=0.417 (45/108, Qatari)
T=0.45 (21/47, Vietnamese)
T=0.42 (17/40, GENOME_DK)
A=0.18 (5/28, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr X NC_000023.11:g.119375063A>G
GRCh38.p13 chr X NC_000023.11:g.119375063A>T
GRCh37.p13 chr X NC_000023.10:g.118509026A>G
GRCh37.p13 chr X NC_000023.10:g.118509026A>T
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

ALFA Allele Frequency (New)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 18520 A=0.57009 T=0.42991
European Sub 14152 A=0.60967 T=0.39033
African Sub 2898 A=0.3364 T=0.6636
African Others Sub 114 A=0.325 T=0.675
African American Sub 2784 A=0.3369 T=0.6631
Asian Sub 112 A=0.670 T=0.330
East Asian Sub 86 A=0.64 T=0.36
Other Asian Sub 26 A=0.77 T=0.23
Latin American 1 Sub 146 A=0.610 T=0.390
Latin American 2 Sub 610 A=0.752 T=0.248
South Asian Sub 98 A=0.58 T=0.42
Other Sub 504 A=0.546 T=0.454


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=0.539359 T=0.460641
gnomAD - Genomes Global Study-wide 102755 A=0.533220 T=0.466780
gnomAD - Genomes European Sub 56596 A=0.60810 T=0.39190
gnomAD - Genomes African Sub 30809 A=0.32968 T=0.67032
gnomAD - Genomes American Sub 9135 A=0.6974 T=0.3026
gnomAD - Genomes Ashkenazi Jewish Sub 2492 A=0.6404 T=0.3596
gnomAD - Genomes East Asian Sub 2178 A=0.6391 T=0.3609
gnomAD - Genomes Other Sub 1545 A=0.5560 T=0.4440
Allele Frequency Aggregator Total Global 18520 A=0.57009 T=0.42991
Allele Frequency Aggregator European Sub 14152 A=0.60967 T=0.39033
Allele Frequency Aggregator African Sub 2898 A=0.3364 T=0.6636
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.752 T=0.248
Allele Frequency Aggregator Other Sub 504 A=0.546 T=0.454
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.610 T=0.390
Allele Frequency Aggregator Asian Sub 112 A=0.670 T=0.330
Allele Frequency Aggregator South Asian Sub 98 A=0.58 T=0.42
8.3KJPN JAPANESE Study-wide 12843 A=0.62026 T=0.37974
1000Genomes Global Study-wide 3775 A=0.5242 T=0.4758
1000Genomes African Sub 1003 A=0.2722 T=0.7278
1000Genomes Europe Sub 766 A=0.636 T=0.364
1000Genomes East Asian Sub 764 A=0.631 T=0.369
1000Genomes South Asian Sub 718 A=0.521 T=0.479
1000Genomes American Sub 524 A=0.693 T=0.307
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6117 T=0.3883
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.6646 G=0.0000, T=0.3354
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 2889 A=0.6134 T=0.3866
HapMap Global Study-wide 1872 A=0.5144 T=0.4856
HapMap American Sub 766 A=0.620 T=0.380
HapMap African Sub 682 A=0.333 T=0.667
HapMap Asian Sub 252 A=0.627 T=0.373
HapMap Europe Sub 172 A=0.599 T=0.401
SGDP_PRJ Global Study-wide 248 A=0.141 T=0.859
Qatari Global Study-wide 108 A=0.583 T=0.417
A Vietnamese Genetic Variation Database Global Study-wide 47 A=0.55 T=0.45
The Danish reference pan genome Danish Study-wide 40 A=0.57 T=0.42
Siberian Global Study-wide 28 A=0.18 T=0.82
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 T
GRCh38.p13 chr X NC_000023.11:g.119375063= NC_000023.11:g.119375063A>G NC_000023.11:g.119375063A>T
GRCh37.p13 chr X NC_000023.10:g.118509026= NC_000023.10:g.118509026A>G NC_000023.10:g.118509026A>T
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#.

48 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss641 Sep 19, 2000 (36)
2 KWOK ss283690 Jul 12, 2000 (85)
3 SC_JCM ss581866 Jul 16, 2000 (80)
4 CSHL-HAPMAP ss19820476 Feb 27, 2004 (120)
5 PERLEGEN ss23831529 Sep 20, 2004 (123)
6 ABI ss43575354 Mar 14, 2006 (126)
7 AFFY ss76477995 Dec 06, 2007 (129)
8 KRIBB_YJKIM ss104807686 Feb 05, 2009 (130)
9 1000GENOMES ss113007813 Jan 25, 2009 (130)
10 1000GENOMES ss115099223 Jan 25, 2009 (130)
11 ILLUMINA-UK ss115648042 Feb 14, 2009 (130)
12 GMI ss157686581 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss165546451 Jul 04, 2010 (132)
14 BUSHMAN ss204353830 Jul 04, 2010 (132)
15 BCM-HGSC-SUB ss208870985 Jul 04, 2010 (132)
16 GMI ss283852362 May 04, 2012 (137)
17 PJP ss294498831 May 09, 2011 (134)
18 1000GENOMES ss341754783 May 09, 2011 (134)
19 TISHKOFF ss567016410 Apr 25, 2013 (138)
20 SSMP ss662990802 Apr 25, 2013 (138)
21 JMKIDD_LAB ss1083101705 Aug 21, 2014 (142)
22 DDI ss1432108892 Apr 01, 2015 (144)
23 1000GENOMES ss1555930667 Apr 01, 2015 (144)
24 EVA_GENOME_DK ss1583491485 Apr 01, 2015 (144)
25 EVA_UK10K_ALSPAC ss1641425760 Apr 01, 2015 (144)
26 EVA_UK10K_TWINSUK ss1684419793 Apr 01, 2015 (144)
27 WEILL_CORNELL_DGM ss1939671232 Feb 12, 2016 (147)
28 GENOMED ss1971426372 Jul 19, 2016 (147)
29 USC_VALOUEV ss2159213288 Dec 20, 2016 (150)
30 HUMAN_LONGEVITY ss2319927462 Dec 20, 2016 (150)
31 GRF ss2710332034 Nov 08, 2017 (151)
32 GNOMAD ss2982796227 Nov 08, 2017 (151)
33 SWEGEN ss3020535073 Nov 08, 2017 (151)
34 BIOINF_KMB_FNS_UNIBA ss3029107259 Nov 08, 2017 (151)
35 TOPMED ss3620596461 Nov 08, 2017 (151)
36 URBANLAB ss3651325763 Oct 12, 2018 (152)
37 EVA ss3770557800 Jul 14, 2019 (153)
38 PACBIO ss3788945777 Jul 14, 2019 (153)
39 PACBIO ss3793813119 Jul 14, 2019 (153)
40 PACBIO ss3798698128 Jul 14, 2019 (153)
41 KHV_HUMAN_GENOMES ss3823337179 Jul 14, 2019 (153)
42 EVA ss3836293425 Apr 27, 2020 (154)
43 EVA ss3841749514 Apr 27, 2020 (154)
44 EVA ss3847283851 Apr 27, 2020 (154)
45 SGDP_PRJ ss3892149706 Apr 27, 2020 (154)
46 KRGDB ss3942822828 Apr 27, 2020 (154)
47 TOPMED ss5135496496 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5236038967 Apr 26, 2021 (155)
49 1000Genomes NC_000023.10 - 118509026 Oct 12, 2018 (152)
50 The Avon Longitudinal Study of Parents and Children NC_000023.10 - 118509026 Oct 12, 2018 (152)
51 The Danish reference pan genome NC_000023.10 - 118509026 Apr 27, 2020 (154)
52 gnomAD - Genomes NC_000023.11 - 119375063 Apr 26, 2021 (155)
53 HapMap NC_000023.11 - 119375063 Apr 27, 2020 (154)
54 KOREAN population from KRGDB NC_000023.10 - 118509026 Apr 27, 2020 (154)
55 Qatari NC_000023.10 - 118509026 Apr 27, 2020 (154)
56 SGDP_PRJ NC_000023.10 - 118509026 Apr 27, 2020 (154)
57 Siberian NC_000023.10 - 118509026 Apr 27, 2020 (154)
58 8.3KJPN NC_000023.10 - 118509026 Apr 26, 2021 (155)
59 TopMed NC_000023.11 - 119375063 Apr 26, 2021 (155)
60 UK 10K study - Twins NC_000023.10 - 118509026 Oct 12, 2018 (152)
61 A Vietnamese Genetic Variation Database NC_000023.10 - 118509026 Jul 14, 2019 (153)
62 ALFA NC_000023.11 - 119375063 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)
rs217931 Sep 19, 2000 (85)
rs17480639 Oct 07, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
50000222, ss3942822828 NC_000023.10:118509025:A:G NC_000023.11:119375062:A:G (self)
ss76477995, ss113007813, ss115099223, ss115648042, ss165546451, ss204353830, ss208870985, ss283852362, ss294498831 NC_000023.9:118393053:A:T NC_000023.11:119375062:A:T (self)
83891438, 46216691, 9656422, 50000222, 21713154, 44166686, 11729642, 94008274, 46216691, 10161320, ss341754783, ss567016410, ss662990802, ss1083101705, ss1432108892, ss1555930667, ss1583491485, ss1641425760, ss1684419793, ss1939671232, ss1971426372, ss2159213288, ss2710332034, ss2982796227, ss3020535073, ss3770557800, ss3788945777, ss3793813119, ss3798698128, ss3836293425, ss3841749514, ss3892149706, ss3942822828, ss5236038967 NC_000023.10:118509025:A:T NC_000023.11:119375062:A:T (self)
589980109, 4027654, 436145903, 699102853, 1623690732, ss2319927462, ss3029107259, ss3620596461, ss3651325763, ss3823337179, ss3847283851, ss5135496496 NC_000023.11:119375062:A:T NC_000023.11:119375062:A:T (self)
ss641, ss283690, ss581866, ss23831529, ss43575354, ss104807686, ss157686581 NT_011786.16:2776735:A:T NC_000023.11:119375062:A:T (self)
ss19820476 NT_077819.3:2776735:A:T NC_000023.11:119375062:A:T (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 rs636

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.post596+ae089ad