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dbSNP Short Genetic Variations

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.

rs10189050

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr2:22901686 (GRCh38.p12) 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
C>A / C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.07712 (9684/125568, TOPMED)
C=0.0719 (2226/30952, GnomAD)
C=0.041 (203/5008, 1000G) (+ 3 more)
C=0.094 (419/4480, Estonian)
C=0.122 (470/3854, ALSPAC)
C=0.132 (490/3708, TWINSUK)
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.p12 chr 2 NC_000002.12:g.22901686C>A
GRCh38.p12 chr 2 NC_000002.12:g.22901686C>G
GRCh37.p13 chr 2 NC_000002.11:g.23124558C>A
GRCh37.p13 chr 2 NC_000002.11:g.23124558C>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

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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 C=0.07712 A=0.92288
gnomAD - Genomes Global Study-wide 30952 C=0.0719 A=0.9281
gnomAD - Genomes European Sub 18494 C=0.1005 A=0.8995
gnomAD - Genomes African Sub 8724 C=0.022 A=0.978
gnomAD - Genomes East Asian Sub 1612 C=0.000 A=1.000
gnomAD - Genomes Other Sub 982 C=0.09 A=0.91
gnomAD - Genomes American Sub 838 C=0.05 A=0.95
gnomAD - Genomes Ashkenazi Jewish Sub 302 C=0.14 A=0.86
1000Genomes Global Study-wide 5008 C=0.041 A=0.959
1000Genomes African Sub 1322 C=0.004 A=0.996
1000Genomes East Asian Sub 1008 C=0.000 A=1.000
1000Genomes Europe Sub 1006 C=0.112 A=0.888
1000Genomes South Asian Sub 978 C=0.04 A=0.96
1000Genomes American Sub 694 C=0.07 A=0.93
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.094 A=0.906
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.122 A=0.878
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.132 A=0.868
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 C= A G Note
GRCh38.p12 chr 2 NC_000002.12:g.22...

NC_000002.12:g.22901686C=

NC_000002.12:g.22...

NC_000002.12:g.22901686C>A

NC_000002.12:g.22...

NC_000002.12:g.22901686C>G

GRCh37.p13 chr 2 NC_000002.11:g.23...

NC_000002.11:g.23124558C=

NC_000002.11:g.23...

NC_000002.11:g.23124558C>A

NC_000002.11:g.23...

NC_000002.11:g.23124558C>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#.

100 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 WUGSC_SSAHASNP ss14053091 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss17658430 Feb 27, 2004 (120)
3 SSAHASNP ss21564838 Apr 05, 2004 (121)
4 ABI ss44254367 Mar 14, 2006 (126)
5 AFFY ss66129612 Nov 29, 2006 (127)
6 ILLUMINA ss66697206 Nov 29, 2006 (127)
7 ILLUMINA ss66875021 Nov 29, 2006 (127)
8 ILLUMINA ss66957463 Nov 29, 2006 (127)
9 PERLEGEN ss68806845 May 16, 2007 (127)
10 ILLUMINA ss70361440 May 16, 2007 (127)
11 ILLUMINA ss70470588 May 26, 2008 (130)
12 ILLUMINA ss70992283 May 16, 2007 (127)
13 ILLUMINA ss75622399 Dec 06, 2007 (129)
14 AFFY ss76134287 Dec 06, 2007 (129)
15 HGSV ss77622921 Dec 06, 2007 (129)
16 HGSV ss80702860 Dec 15, 2007 (130)
17 HGSV ss84343022 Dec 15, 2007 (130)
18 KRIBB_YJKIM ss84919257 Dec 15, 2007 (130)
19 BCMHGSC_JDW ss91086717 Mar 24, 2008 (129)
20 HUMANGENOME_JCVI ss97020120 Feb 06, 2009 (130)
21 BGI ss106075279 Feb 06, 2009 (130)
22 1000GENOMES ss109302829 Jan 23, 2009 (130)
23 1000GENOMES ss109954928 Jan 24, 2009 (130)
24 ILLUMINA-UK ss117623761 Feb 14, 2009 (130)
25 ILLUMINA ss121280451 Dec 01, 2009 (131)
26 ENSEMBL ss135942467 Dec 01, 2009 (131)
27 ENSEMBL ss138404711 Dec 01, 2009 (131)
28 ILLUMINA ss152597616 Dec 01, 2009 (131)
29 GMI ss156798944 Dec 01, 2009 (131)
30 ILLUMINA ss159114716 Dec 01, 2009 (131)
31 ILLUMINA ss159875760 Dec 01, 2009 (131)
32 COMPLETE_GENOMICS ss163194302 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss163999670 Jul 04, 2010 (132)
34 COMPLETE_GENOMICS ss166275363 Jul 04, 2010 (132)
35 ILLUMINA ss169307497 Jul 04, 2010 (132)
36 ILLUMINA ss169822154 Jul 04, 2010 (132)
37 AFFY ss172602974 Jul 04, 2010 (132)
38 BUSHMAN ss200155832 Jul 04, 2010 (132)
39 BCM-HGSC-SUB ss205714267 Jul 04, 2010 (132)
40 1000GENOMES ss231075475 Jul 14, 2010 (132)
41 BL ss252970868 May 09, 2011 (134)
42 GMI ss276384981 May 04, 2012 (137)
43 GMI ss284306987 Apr 25, 2013 (138)
44 PJP ss292526809 May 09, 2011 (134)
45 ILLUMINA ss479218078 May 04, 2012 (137)
46 ILLUMINA ss479220598 May 04, 2012 (137)
47 ILLUMINA ss479569187 Sep 08, 2015 (146)
48 ILLUMINA ss484409905 May 04, 2012 (137)
49 ILLUMINA ss536587440 Sep 08, 2015 (146)
50 TISHKOFF ss555415430 Apr 25, 2013 (138)
51 SSMP ss648994693 Apr 25, 2013 (138)
52 ILLUMINA ss778350677 Sep 08, 2015 (146)
53 ILLUMINA ss782651379 Sep 08, 2015 (146)
54 ILLUMINA ss783620602 Sep 08, 2015 (146)
55 ILLUMINA ss825331171 Jul 19, 2016 (147)
56 ILLUMINA ss831901715 Sep 08, 2015 (146)
57 ILLUMINA ss833805364 Sep 08, 2015 (146)
58 EVA-GONL ss976584044 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1068932823 Aug 21, 2014 (142)
60 1000GENOMES ss1296272771 Aug 21, 2014 (142)
61 DDI ss1428506545 Apr 01, 2015 (144)
62 EVA_GENOME_DK ss1578778911 Apr 01, 2015 (144)
63 EVA_DECODE ss1585987139 Apr 01, 2015 (144)
64 EVA_UK10K_ALSPAC ss1603004725 Apr 01, 2015 (144)
65 EVA_UK10K_TWINSUK ss1645998758 Apr 01, 2015 (144)
66 EVA_SVP ss1712438200 Apr 01, 2015 (144)
67 ILLUMINA ss1752343672 Sep 08, 2015 (146)
68 HAMMER_LAB ss1796415626 Sep 08, 2015 (146)
69 WEILL_CORNELL_DGM ss1919817666 Feb 12, 2016 (147)
70 GENOMED ss1968716330 Jul 19, 2016 (147)
71 JJLAB ss2020436275 Sep 14, 2016 (149)
72 USC_VALOUEV ss2148480486 Dec 20, 2016 (150)
73 HUMAN_LONGEVITY ss2228262492 Dec 20, 2016 (150)
74 TOPMED ss2394178171 Dec 20, 2016 (150)
75 SYSTEMSBIOZJU ss2624734309 Nov 08, 2017 (151)
76 ILLUMINA ss2633583983 Nov 08, 2017 (151)
77 GRF ss2703040738 Nov 08, 2017 (151)
78 GNOMAD ss2770739246 Nov 08, 2017 (151)
79 AFFY ss2985786037 Nov 08, 2017 (151)
80 SWEGEN ss2989122050 Nov 08, 2017 (151)
81 ILLUMINA ss3021949028 Nov 08, 2017 (151)
82 BIOINF_KMB_FNS_UNIBA ss3023984944 Nov 08, 2017 (151)
83 TOPMED ss3301609767 Nov 08, 2017 (151)
84 TOPMED ss3301609768 Nov 08, 2017 (151)
85 CSHL ss3344117395 Nov 08, 2017 (151)
86 ILLUMINA ss3628011798 Oct 11, 2018 (152)
87 ILLUMINA ss3631552713 Oct 11, 2018 (152)
88 ILLUMINA ss3633192041 Oct 11, 2018 (152)
89 ILLUMINA ss3633903330 Oct 11, 2018 (152)
90 ILLUMINA ss3634755141 Oct 11, 2018 (152)
91 ILLUMINA ss3635589795 Oct 11, 2018 (152)
92 ILLUMINA ss3636441374 Oct 11, 2018 (152)
93 ILLUMINA ss3637341616 Oct 11, 2018 (152)
94 ILLUMINA ss3638247144 Oct 11, 2018 (152)
95 ILLUMINA ss3639128517 Oct 11, 2018 (152)
96 ILLUMINA ss3639575629 Oct 11, 2018 (152)
97 ILLUMINA ss3640462445 Oct 11, 2018 (152)
98 ILLUMINA ss3643218265 Oct 11, 2018 (152)
99 URBANLAB ss3646984509 Oct 11, 2018 (152)
100 ILLUMINA ss3652377992 Oct 11, 2018 (152)
101 1000Genomes NC_000002.11 - 23124558 Oct 11, 2018 (152)
102 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 23124558 Oct 11, 2018 (152)
103 Genetic variation in the Estonian population NC_000002.11 - 23124558 Oct 11, 2018 (152)
104 gnomAD - Genomes NC_000002.11 - 23124558 Oct 11, 2018 (152)
105 TopMed NC_000002.12 - 22901686 Oct 11, 2018 (152)
106 UK 10K study - Twins NC_000002.11 - 23124558 Oct 11, 2018 (152)
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)
rs61004524 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss77622921, ss80702860, ss84343022, ss3639128517, ss3639575629 NC_000002.9:23036209:C= NC_000002.12:22901685:C= (self)
ss91086717, ss109302829, ss109954928, ss117623761, ss163194302, ss163999670, ss166275363, ss200155832, ss205714267, ss252970868, ss276384981, ss284306987, ss292526809, ss479218078, ss825331171, ss1585987139, ss1712438200, ss3643218265 NC_000002.10:22978062:C= NC_000002.12:22901685:C= (self)
7186622, 3989792, 2814921, 100229107, 3989792, ss231075475, ss479220598, ss479569187, ss484409905, ss536587440, ss555415430, ss648994693, ss778350677, ss782651379, ss783620602, ss831901715, ss833805364, ss976584044, ss1068932823, ss1296272771, ss1428506545, ss1578778911, ss1603004725, ss1645998758, ss1752343672, ss1796415626, ss1919817666, ss1968716330, ss2020436275, ss2148480486, ss2394178171, ss2624734309, ss2633583983, ss2703040738, ss2770739246, ss2985786037, ss2989122050, ss3021949028, ss3344117395, ss3628011798, ss3631552713, ss3633192041, ss3633903330, ss3634755141, ss3635589795, ss3636441374, ss3637341616, ss3638247144, ss3640462445, ss3652377992 NC_000002.11:23124557:C= NC_000002.12:22901685:C= (self)
187845486, ss2228262492, ss3023984944, ss3301609767, ss3301609768, ss3646984509 NC_000002.12:22901685:C= NC_000002.12:22901685:C= (self)
ss14053091, ss17658430, ss21564838 NT_022184.13:1940491:C= NC_000002.12:22901685:C= (self)
ss44254367, ss66129612, ss66697206, ss66875021, ss66957463, ss68806845, ss70361440, ss70470588, ss70992283, ss75622399, ss76134287, ss84919257, ss97020120, ss106075279, ss121280451, ss135942467, ss138404711, ss152597616, ss156798944, ss159114716, ss159875760, ss169307497, ss169822154, ss172602974 NT_022184.15:1946444:C= NC_000002.12:22901685:C= (self)
ss77622921, ss80702860, ss84343022, ss3639128517, ss3639575629 NC_000002.9:23036209:C>A NC_000002.12:22901685:C>A (self)
ss91086717, ss109302829, ss109954928, ss117623761, ss163194302, ss163999670, ss166275363, ss200155832, ss205714267, ss252970868, ss276384981, ss284306987, ss292526809, ss479218078, ss825331171, ss1585987139, ss1712438200, ss3643218265 NC_000002.10:22978062:C>A NC_000002.12:22901685:C>A (self)
7186622, 3989792, 2814921, 100229107, 3989792, ss231075475, ss479220598, ss479569187, ss484409905, ss536587440, ss555415430, ss648994693, ss778350677, ss782651379, ss783620602, ss831901715, ss833805364, ss976584044, ss1068932823, ss1296272771, ss1428506545, ss1578778911, ss1603004725, ss1645998758, ss1752343672, ss1796415626, ss1919817666, ss1968716330, ss2020436275, ss2148480486, ss2394178171, ss2624734309, ss2633583983, ss2703040738, ss2770739246, ss2985786037, ss2989122050, ss3021949028, ss3344117395, ss3628011798, ss3631552713, ss3633192041, ss3633903330, ss3634755141, ss3635589795, ss3636441374, ss3637341616, ss3638247144, ss3640462445, ss3652377992 NC_000002.11:23124557:C>A NC_000002.12:22901685:C>A (self)
187845486, ss2228262492, ss3023984944, ss3301609767, ss3646984509 NC_000002.12:22901685:C>A NC_000002.12:22901685:C>A (self)
ss14053091, ss17658430, ss21564838 NT_022184.13:1940491:C>A NC_000002.12:22901685:C>A (self)
ss44254367, ss66129612, ss66697206, ss66875021, ss66957463, ss68806845, ss70361440, ss70470588, ss70992283, ss75622399, ss76134287, ss84919257, ss97020120, ss106075279, ss121280451, ss135942467, ss138404711, ss152597616, ss156798944, ss159114716, ss159875760, ss169307497, ss169822154, ss172602974 NT_022184.15:1946444:C>A NC_000002.12:22901685:C>A (self)
ss3301609768 NC_000002.12:22901685:C>G NC_000002.12:22901685:C>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 rs10189050

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.post63+3f7b20b