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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.

rs952061

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr12:101584447 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.115014 (30443/264690, TOPMED)
T=0.120118 (16810/139946, GnomAD)
T=0.130233 (15455/118672, ALFA) (+ 20 more)
T=0.09377 (7380/78702, PAGE_STUDY)
T=0.08347 (1399/16760, 8.3KJPN)
T=0.0909 (455/5008, 1000G)
T=0.1315 (589/4480, Estonian)
T=0.1232 (475/3854, ALSPAC)
T=0.1338 (496/3708, TWINSUK)
T=0.0572 (167/2922, KOREAN)
T=0.1075 (224/2084, HGDP_Stanford)
T=0.0951 (180/1892, HapMap)
T=0.0600 (110/1832, Korea1K)
T=0.1417 (161/1136, Daghestan)
T=0.106 (106/998, GoNL)
T=0.078 (47/600, NorthernSweden)
T=0.301 (65/216, Qatari)
T=0.094 (20/212, Vietnamese)
C=0.481 (51/106, SGDP_PRJ)
T=0.14 (12/88, Ancient Sardinia)
T=0.12 (5/40, GENOME_DK)
C=0.5 (2/4, Siberian)
T=0.5 (2/4, 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 118672 C=0.869767 T=0.130233
European Sub 91810 C=0.86069 T=0.13931
African Sub 9790 C=0.9114 T=0.0886
African Others Sub 330 C=0.930 T=0.070
African American Sub 9460 C=0.9108 T=0.0892
Asian Sub 570 C=0.932 T=0.068
East Asian Sub 488 C=0.932 T=0.068
Other Asian Sub 82 C=0.93 T=0.07
Latin American 1 Sub 696 C=0.838 T=0.162
Latin American 2 Sub 5622 C=0.9164 T=0.0836
South Asian Sub 5044 C=0.9088 T=0.0912
Other Sub 5140 C=0.8607 T=0.1393


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 C=0.884986 T=0.115014
gnomAD - Genomes Global Study-wide 139946 C=0.879882 T=0.120118
gnomAD - Genomes European Sub 75826 C=0.86114 T=0.13886
gnomAD - Genomes African Sub 41918 C=0.91502 T=0.08498
gnomAD - Genomes American Sub 13622 C=0.88900 T=0.11100
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=0.7839 T=0.2161
gnomAD - Genomes East Asian Sub 3118 C=0.9352 T=0.0648
gnomAD - Genomes Other Sub 2144 C=0.8657 T=0.1343
Allele Frequency Aggregator Total Global 118672 C=0.869767 T=0.130233
Allele Frequency Aggregator European Sub 91810 C=0.86069 T=0.13931
Allele Frequency Aggregator African Sub 9790 C=0.9114 T=0.0886
Allele Frequency Aggregator Latin American 2 Sub 5622 C=0.9164 T=0.0836
Allele Frequency Aggregator Other Sub 5140 C=0.8607 T=0.1393
Allele Frequency Aggregator South Asian Sub 5044 C=0.9088 T=0.0912
Allele Frequency Aggregator Latin American 1 Sub 696 C=0.838 T=0.162
Allele Frequency Aggregator Asian Sub 570 C=0.932 T=0.068
The PAGE Study Global Study-wide 78702 C=0.90623 T=0.09377
The PAGE Study AfricanAmerican Sub 32516 C=0.91337 T=0.08663
The PAGE Study Mexican Sub 10810 C=0.91341 T=0.08659
The PAGE Study Asian Sub 8318 C=0.9211 T=0.0789
The PAGE Study PuertoRican Sub 7918 C=0.8855 T=0.1145
The PAGE Study NativeHawaiian Sub 4534 C=0.8955 T=0.1045
The PAGE Study Cuban Sub 4230 C=0.8478 T=0.1522
The PAGE Study Dominican Sub 3828 C=0.9005 T=0.0995
The PAGE Study CentralAmerican Sub 2450 C=0.9245 T=0.0755
The PAGE Study SouthAmerican Sub 1982 C=0.9031 T=0.0969
The PAGE Study NativeAmerican Sub 1260 C=0.9151 T=0.0849
The PAGE Study SouthAsian Sub 856 C=0.905 T=0.095
8.3KJPN JAPANESE Study-wide 16760 C=0.91653 T=0.08347
1000Genomes Global Study-wide 5008 C=0.9091 T=0.0909
1000Genomes African Sub 1322 C=0.9168 T=0.0832
1000Genomes East Asian Sub 1008 C=0.9246 T=0.0754
1000Genomes Europe Sub 1006 C=0.8519 T=0.1481
1000Genomes South Asian Sub 978 C=0.933 T=0.067
1000Genomes American Sub 694 C=0.922 T=0.078
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8685 T=0.1315
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8768 T=0.1232
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8662 T=0.1338
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9428 T=0.0572
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.8925 T=0.1075
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.947 T=0.053
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.879 T=0.121
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.766 T=0.234
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.869 T=0.131
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.913 T=0.087
HGDP-CEPH-db Supplement 1 America Sub 216 C=1.000 T=0.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.94 T=0.06
HapMap Global Study-wide 1892 C=0.9049 T=0.0951
HapMap American Sub 770 C=0.906 T=0.094
HapMap African Sub 692 C=0.915 T=0.085
HapMap Asian Sub 254 C=0.909 T=0.091
HapMap Europe Sub 176 C=0.852 T=0.148
Korean Genome Project KOREAN Study-wide 1832 C=0.9400 T=0.0600
Genome-wide autozygosity in Daghestan Global Study-wide 1136 C=0.8583 T=0.1417
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.861 T=0.139
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.764 T=0.236
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.893 T=0.107
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.870 T=0.130
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.93 T=0.07
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.83 T=0.17
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.894 T=0.106
Northern Sweden ACPOP Study-wide 600 C=0.922 T=0.078
Qatari Global Study-wide 216 C=0.699 T=0.301
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.906 T=0.094
SGDP_PRJ Global Study-wide 106 C=0.481 T=0.519
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 88 C=0.86 T=0.14
The Danish reference pan genome Danish Study-wide 40 C=0.88 T=0.12
Siberian Global Study-wide 4 C=0.5 T=0.5
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 12 NC_000012.12:g.101584447C>T
GRCh37.p13 chr 12 NC_000012.11:g.101978225C>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
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= T
GRCh38.p13 chr 12 NC_000012.12:g.101584447= NC_000012.12:g.101584447C>T
GRCh37.p13 chr 12 NC_000012.11:g.101978225= NC_000012.11:g.101978225C>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#.

88 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1396035 Oct 05, 2000 (86)
2 PERLEGEN ss24452922 Sep 20, 2004 (123)
3 ABI ss38899229 Mar 13, 2006 (126)
4 ILLUMINA ss66727884 Nov 30, 2006 (127)
5 ILLUMINA ss67925913 Nov 30, 2006 (127)
6 ILLUMINA ss68047979 Nov 30, 2006 (127)
7 PERLEGEN ss69118747 May 17, 2007 (127)
8 ILLUMINA ss71612629 May 17, 2007 (127)
9 ILLUMINA ss75663605 Dec 06, 2007 (129)
10 ILLUMINA ss79298668 Dec 14, 2007 (130)
11 KRIBB_YJKIM ss83628765 Dec 14, 2007 (130)
12 ILLUMINA ss98267426 May 23, 2008 (130)
13 ILLUMINA ss123005637 Dec 01, 2009 (131)
14 ILLUMINA ss154498404 Dec 01, 2009 (131)
15 ILLUMINA ss159672270 Dec 01, 2009 (131)
16 ILLUMINA ss160994940 Dec 01, 2009 (131)
17 ILLUMINA ss172474780 Jul 04, 2010 (132)
18 ILLUMINA ss174858027 Jul 04, 2010 (132)
19 1000GENOMES ss211330346 Jul 14, 2010 (132)
20 1000GENOMES ss225928240 Jul 14, 2010 (132)
21 1000GENOMES ss236064684 Jul 15, 2010 (132)
22 1000GENOMES ss242596375 Jul 15, 2010 (132)
23 GMI ss281525031 May 04, 2012 (137)
24 GMI ss286617233 Apr 25, 2013 (138)
25 ILLUMINA ss479715724 May 04, 2012 (137)
26 ILLUMINA ss482913178 Sep 08, 2015 (146)
27 ILLUMINA ss482954179 May 04, 2012 (137)
28 ILLUMINA ss533219711 Sep 08, 2015 (146)
29 TISHKOFF ss563365634 Apr 25, 2013 (138)
30 SSMP ss658947349 Apr 25, 2013 (138)
31 ILLUMINA ss779638396 Sep 08, 2015 (146)
32 ILLUMINA ss781050607 Sep 08, 2015 (146)
33 ILLUMINA ss825629186 Apr 01, 2015 (144)
34 ILLUMINA ss833182996 Jul 13, 2019 (153)
35 ILLUMINA ss835111165 Sep 08, 2015 (146)
36 EVA-GONL ss989892284 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1078723312 Aug 21, 2014 (142)
38 1000GENOMES ss1346383912 Aug 21, 2014 (142)
39 HAMMER_LAB ss1397643792 Sep 08, 2015 (146)
40 DDI ss1427035469 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1576485118 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1629306011 Apr 01, 2015 (144)
43 EVA_DECODE ss1641994759 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1672300044 Apr 01, 2015 (144)
45 EVA_SVP ss1713352726 Apr 01, 2015 (144)
46 HAMMER_LAB ss1807391127 Sep 08, 2015 (146)
47 WEILL_CORNELL_DGM ss1933246688 Feb 12, 2016 (147)
48 ILLUMINA ss1959460614 Feb 12, 2016 (147)
49 JJLAB ss2027379429 Sep 14, 2016 (149)
50 USC_VALOUEV ss2155725716 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2192652151 Dec 20, 2016 (150)
52 TOPMED ss2356671120 Dec 20, 2016 (150)
53 ILLUMINA ss2633000256 Nov 08, 2017 (151)
54 ILLUMINA ss2635040019 Nov 08, 2017 (151)
55 GRF ss2700082721 Nov 08, 2017 (151)
56 GNOMAD ss2914455317 Nov 08, 2017 (151)
57 SWEGEN ss3010244474 Nov 08, 2017 (151)
58 ILLUMINA ss3021459417 Nov 08, 2017 (151)
59 BIOINF_KMB_FNS_UNIBA ss3027500118 Nov 08, 2017 (151)
60 TOPMED ss3179999954 Nov 08, 2017 (151)
61 CSHL ss3350220469 Nov 08, 2017 (151)
62 ILLUMINA ss3626952827 Oct 12, 2018 (152)
63 ILLUMINA ss3631007168 Oct 12, 2018 (152)
64 ILLUMINA ss3636206355 Oct 12, 2018 (152)
65 ILLUMINA ss3637982451 Oct 12, 2018 (152)
66 ILLUMINA ss3639004619 Oct 12, 2018 (152)
67 ILLUMINA ss3639505074 Oct 12, 2018 (152)
68 ILLUMINA ss3641808075 Oct 12, 2018 (152)
69 ILLUMINA ss3642974432 Oct 12, 2018 (152)
70 URBANLAB ss3649910994 Oct 12, 2018 (152)
71 ILLUMINA ss3651840948 Oct 12, 2018 (152)
72 EGCUT_WGS ss3677539534 Jul 13, 2019 (153)
73 EVA_DECODE ss3694337629 Jul 13, 2019 (153)
74 ILLUMINA ss3725351165 Jul 13, 2019 (153)
75 ACPOP ss3739326069 Jul 13, 2019 (153)
76 EVA ss3750888184 Jul 13, 2019 (153)
77 PAGE_CC ss3771712445 Jul 13, 2019 (153)
78 KHV_HUMAN_GENOMES ss3816221845 Jul 13, 2019 (153)
79 EVA ss3833294726 Apr 27, 2020 (154)
80 HGDP ss3847462011 Apr 27, 2020 (154)
81 SGDP_PRJ ss3878981279 Apr 27, 2020 (154)
82 KRGDB ss3927704953 Apr 27, 2020 (154)
83 KOGIC ss3972592881 Apr 27, 2020 (154)
84 EVA ss3985610352 Apr 26, 2021 (155)
85 EVA ss4017606692 Apr 26, 2021 (155)
86 TOPMED ss4930543853 Apr 26, 2021 (155)
87 TOMMO_GENOMICS ss5207876259 Apr 26, 2021 (155)
88 EVA ss5237517411 Apr 26, 2021 (155)
89 1000Genomes NC_000012.11 - 101978225 Oct 12, 2018 (152)
90 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 101978225 Oct 12, 2018 (152)
91 Genome-wide autozygosity in Daghestan NC_000012.10 - 100502356 Apr 27, 2020 (154)
92 Genetic variation in the Estonian population NC_000012.11 - 101978225 Oct 12, 2018 (152)
93 The Danish reference pan genome NC_000012.11 - 101978225 Apr 27, 2020 (154)
94 gnomAD - Genomes NC_000012.12 - 101584447 Apr 26, 2021 (155)
95 Genome of the Netherlands Release 5 NC_000012.11 - 101978225 Apr 27, 2020 (154)
96 HGDP-CEPH-db Supplement 1 NC_000012.10 - 100502356 Apr 27, 2020 (154)
97 HapMap NC_000012.12 - 101584447 Apr 27, 2020 (154)
98 KOREAN population from KRGDB NC_000012.11 - 101978225 Apr 27, 2020 (154)
99 Korean Genome Project NC_000012.12 - 101584447 Apr 27, 2020 (154)
100 Northern Sweden NC_000012.11 - 101978225 Jul 13, 2019 (153)
101 The PAGE Study NC_000012.12 - 101584447 Jul 13, 2019 (153)
102 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 101978225 Apr 26, 2021 (155)
103 Qatari NC_000012.11 - 101978225 Apr 27, 2020 (154)
104 SGDP_PRJ NC_000012.11 - 101978225 Apr 27, 2020 (154)
105 Siberian NC_000012.11 - 101978225 Apr 27, 2020 (154)
106 8.3KJPN NC_000012.11 - 101978225 Apr 26, 2021 (155)
107 TopMed NC_000012.12 - 101584447 Apr 26, 2021 (155)
108 UK 10K study - Twins NC_000012.11 - 101978225 Oct 12, 2018 (152)
109 A Vietnamese Genetic Variation Database NC_000012.11 - 101978225 Jul 13, 2019 (153)
110 ALFA NC_000012.12 - 101584447 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)
rs17417569 Oct 08, 2004 (123)
rs57596947 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639004619, ss3639505074 NC_000012.9:100480692:C:T NC_000012.12:101584446:C:T (self)
114567, 139903, ss211330346, ss281525031, ss286617233, ss482954179, ss825629186, ss1397643792, ss1641994759, ss1713352726, ss2635040019, ss3642974432, ss3847462011 NC_000012.10:100502355:C:T NC_000012.12:101584446:C:T (self)
59185283, 32862848, 23277782, 3101841, 14662435, 34882347, 12610934, 836279, 15288618, 30998259, 8242070, 65845566, 32862848, 7295185, ss225928240, ss236064684, ss242596375, ss479715724, ss482913178, ss533219711, ss563365634, ss658947349, ss779638396, ss781050607, ss833182996, ss835111165, ss989892284, ss1078723312, ss1346383912, ss1427035469, ss1576485118, ss1629306011, ss1672300044, ss1807391127, ss1933246688, ss1959460614, ss2027379429, ss2155725716, ss2356671120, ss2633000256, ss2700082721, ss2914455317, ss3010244474, ss3021459417, ss3350220469, ss3626952827, ss3631007168, ss3636206355, ss3637982451, ss3641808075, ss3651840948, ss3677539534, ss3739326069, ss3750888184, ss3833294726, ss3878981279, ss3927704953, ss3985610352, ss4017606692, ss5207876259, ss5237517411 NC_000012.11:101978224:C:T NC_000012.12:101584446:C:T (self)
417479822, 891533, 28970882, 933914, 91409471, 146089510, 10707597505, ss2192652151, ss3027500118, ss3179999954, ss3649910994, ss3694337629, ss3725351165, ss3771712445, ss3816221845, ss3972592881, ss4930543853 NC_000012.12:101584446:C:T NC_000012.12:101584446:C:T (self)
ss1396035, ss24452922, ss38899229, ss66727884, ss67925913, ss68047979, ss69118747, ss71612629, ss75663605, ss79298668, ss83628765, ss98267426, ss123005637, ss154498404, ss159672270, ss160994940, ss172474780, ss174858027 NT_029419.12:64121530:C:T NC_000012.12:101584446:C: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 rs952061

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.post676+237644a