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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.

rs12021510

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:161739421 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.040965 (10843/264690, TOPMED)
G=0.053699 (8110/151028, ALFA)
G=0.038226 (5359/140192, GnomAD) (+ 17 more)
G=0.11020 (1847/16760, 8.3KJPN)
G=0.0389 (195/5008, 1000G)
G=0.0342 (153/4480, Estonian)
G=0.0638 (246/3854, ALSPAC)
G=0.0655 (243/3708, TWINSUK)
G=0.0952 (279/2930, KOREAN)
G=0.0299 (34/1136, Daghestan)
G=0.0571 (64/1120, HapMap)
G=0.072 (72/998, GoNL)
G=0.115 (72/626, Chileans)
G=0.068 (41/600, NorthernSweden)
G=0.009 (2/216, Qatari)
G=0.019 (4/214, Vietnamese)
A=0.48 (29/60, SGDP_PRJ)
G=0.03 (1/40, GENOME_DK)
A=0.5 (5/10, Siberian)
G=0.5 (5/10, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
1 citation
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 1 NC_000001.11:g.161739421A>G
GRCh37.p13 chr 1 NC_000001.10:g.161709211A>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

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 151028 A=0.946301 G=0.053699
European Sub 131732 A=0.944258 G=0.055742
African Sub 6214 A=0.9899 G=0.0101
African Others Sub 220 A=1.000 G=0.000
African American Sub 5994 A=0.9895 G=0.0105
Asian Sub 672 A=0.951 G=0.049
East Asian Sub 508 A=0.943 G=0.057
Other Asian Sub 164 A=0.976 G=0.024
Latin American 1 Sub 824 A=0.959 G=0.041
Latin American 2 Sub 4364 A=0.9358 G=0.0642
South Asian Sub 198 A=0.980 G=0.020
Other Sub 7024 A=0.9497 G=0.0503


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=0.959035 G=0.040965
gnomAD - Genomes Global Study-wide 140192 A=0.961774 G=0.038226
gnomAD - Genomes European Sub 75900 A=0.94718 G=0.05282
gnomAD - Genomes African Sub 42038 A=0.98977 G=0.01023
gnomAD - Genomes American Sub 13652 A=0.95876 G=0.04124
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.9840 G=0.0160
gnomAD - Genomes East Asian Sub 3130 A=0.9329 G=0.0671
gnomAD - Genomes Other Sub 2150 A=0.9563 G=0.0437
8.3KJPN JAPANESE Study-wide 16760 A=0.88980 G=0.11020
1000Genomes Global Study-wide 5008 A=0.9611 G=0.0389
1000Genomes African Sub 1322 A=0.9977 G=0.0023
1000Genomes East Asian Sub 1008 A=0.9236 G=0.0764
1000Genomes Europe Sub 1006 A=0.9473 G=0.0527
1000Genomes South Asian Sub 978 A=0.969 G=0.031
1000Genomes American Sub 694 A=0.954 G=0.046
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9658 G=0.0342
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9362 G=0.0638
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9345 G=0.0655
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.9048 G=0.0952
Genome-wide autozygosity in Daghestan Global Study-wide 1136 A=0.9701 G=0.0299
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.967 G=0.033
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.993 G=0.007
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.975 G=0.025
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.944 G=0.056
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.99 G=0.01
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.94 G=0.06
HapMap Global Study-wide 1120 A=0.9429 G=0.0571
HapMap American Sub 570 A=0.954 G=0.046
HapMap Asian Sub 254 A=0.878 G=0.122
HapMap Europe Sub 176 A=0.960 G=0.040
HapMap African Sub 120 A=1.000 G=0.000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.928 G=0.072
Chileans Chilean Study-wide 626 A=0.885 G=0.115
Northern Sweden ACPOP Study-wide 600 A=0.932 G=0.068
Qatari Global Study-wide 216 A=0.991 G=0.009
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.981 G=0.019
SGDP_PRJ Global Study-wide 60 A=0.48 G=0.52
The Danish reference pan genome Danish Study-wide 40 A=0.97 G=0.03
Siberian Global Study-wide 10 A=0.5 G=0.5
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.p13 chr 1 NC_000001.11:g.161739421= NC_000001.11:g.161739421A>G
GRCh37.p13 chr 1 NC_000001.10:g.161709211= NC_000001.10:g.161709211A>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#.

76 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18069727 Feb 28, 2004 (120)
2 PERLEGEN ss24244502 Sep 20, 2004 (123)
3 AFFY ss66448741 Dec 01, 2006 (127)
4 PERLEGEN ss68782075 May 18, 2007 (127)
5 AFFY ss76236528 Dec 06, 2007 (129)
6 KRIBB_YJKIM ss82944318 Dec 14, 2007 (130)
7 BCMHGSC_JDW ss87841946 Mar 23, 2008 (129)
8 1000GENOMES ss108637379 Jan 23, 2009 (130)
9 ENSEMBL ss138091350 Dec 01, 2009 (131)
10 ILLUMINA ss160026517 Dec 01, 2009 (131)
11 AFFY ss172921378 Jul 04, 2010 (132)
12 1000GENOMES ss230750076 Jul 14, 2010 (132)
13 1000GENOMES ss238394305 Jul 15, 2010 (132)
14 GMI ss276070760 May 04, 2012 (137)
15 PJP ss290647316 May 09, 2011 (134)
16 ILLUMINA ss479653154 May 04, 2012 (137)
17 ILLUMINA ss479658459 May 04, 2012 (137)
18 ILLUMINA ss480171907 Sep 08, 2015 (146)
19 ILLUMINA ss484625224 May 04, 2012 (137)
20 ILLUMINA ss536747067 Sep 08, 2015 (146)
21 SSMP ss648447502 Apr 25, 2013 (138)
22 ILLUMINA ss778397708 Sep 08, 2015 (146)
23 ILLUMINA ss782759426 Sep 08, 2015 (146)
24 ILLUMINA ss783725897 Sep 08, 2015 (146)
25 ILLUMINA ss832011661 Sep 08, 2015 (146)
26 ILLUMINA ss833852841 Sep 08, 2015 (146)
27 EVA-GONL ss975734748 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1068306046 Aug 21, 2014 (142)
29 1000GENOMES ss1293125310 Aug 21, 2014 (142)
30 HAMMER_LAB ss1397261419 Sep 08, 2015 (146)
31 EVA_GENOME_DK ss1574425184 Apr 01, 2015 (144)
32 EVA_DECODE ss1585117770 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1601318621 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1644312654 Apr 01, 2015 (144)
35 EVA_SVP ss1712374838 Apr 01, 2015 (144)
36 ILLUMINA ss1751876947 Sep 08, 2015 (146)
37 WEILL_CORNELL_DGM ss1918971370 Feb 12, 2016 (147)
38 JJLAB ss2019999301 Sep 14, 2016 (149)
39 USC_VALOUEV ss2148026270 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2166936224 Dec 20, 2016 (150)
41 TOPMED ss2329465749 Dec 20, 2016 (150)
42 ILLUMINA ss2632582791 Nov 08, 2017 (151)
43 GRF ss2698001673 Nov 08, 2017 (151)
44 GNOMAD ss2761891304 Nov 08, 2017 (151)
45 AFFY ss2984882935 Nov 08, 2017 (151)
46 AFFY ss2985527255 Nov 08, 2017 (151)
47 SWEGEN ss2987835367 Nov 08, 2017 (151)
48 TOPMED ss3093463297 Nov 08, 2017 (151)
49 CSHL ss3343733121 Nov 08, 2017 (151)
50 ILLUMINA ss3626222393 Oct 11, 2018 (152)
51 ILLUMINA ss3630615242 Oct 11, 2018 (152)
52 ILLUMINA ss3632911988 Oct 11, 2018 (152)
53 ILLUMINA ss3633607436 Oct 11, 2018 (152)
54 ILLUMINA ss3634354251 Oct 11, 2018 (152)
55 ILLUMINA ss3635300838 Oct 11, 2018 (152)
56 ILLUMINA ss3636032660 Oct 11, 2018 (152)
57 ILLUMINA ss3637051336 Oct 11, 2018 (152)
58 ILLUMINA ss3640061605 Oct 11, 2018 (152)
59 ILLUMINA ss3640987787 Oct 11, 2018 (152)
60 ILLUMINA ss3641281826 Oct 11, 2018 (152)
61 ILLUMINA ss3653652258 Oct 11, 2018 (152)
62 EGCUT_WGS ss3655774194 Jul 12, 2019 (153)
63 EVA_DECODE ss3687881079 Jul 12, 2019 (153)
64 ACPOP ss3727528335 Jul 12, 2019 (153)
65 ILLUMINA ss3744655141 Jul 12, 2019 (153)
66 EVA ss3746868431 Jul 12, 2019 (153)
67 ILLUMINA ss3772156216 Jul 12, 2019 (153)
68 KHV_HUMAN_GENOMES ss3799868854 Jul 12, 2019 (153)
69 EVA ss3826450181 Apr 25, 2020 (154)
70 EVA ss3836620247 Apr 25, 2020 (154)
71 EVA ss3842029784 Apr 25, 2020 (154)
72 SGDP_PRJ ss3850109607 Apr 25, 2020 (154)
73 KRGDB ss3895335371 Apr 25, 2020 (154)
74 EVA ss4016941032 Apr 25, 2021 (155)
75 TOPMED ss4470064242 Apr 25, 2021 (155)
76 TOMMO_GENOMICS ss5146717381 Apr 25, 2021 (155)
77 1000Genomes NC_000001.10 - 161709211 Oct 11, 2018 (152)
78 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 161709211 Oct 11, 2018 (152)
79 Chileans NC_000001.10 - 161709211 Apr 25, 2020 (154)
80 Genome-wide autozygosity in Daghestan NC_000001.9 - 159975835 Apr 25, 2020 (154)
81 Genetic variation in the Estonian population NC_000001.10 - 161709211 Oct 11, 2018 (152)
82 The Danish reference pan genome NC_000001.10 - 161709211 Apr 25, 2020 (154)
83 gnomAD - Genomes NC_000001.11 - 161739421 Apr 25, 2021 (155)
84 Genome of the Netherlands Release 5 NC_000001.10 - 161709211 Apr 25, 2020 (154)
85 HapMap NC_000001.11 - 161739421 Apr 25, 2020 (154)
86 KOREAN population from KRGDB NC_000001.10 - 161709211 Apr 25, 2020 (154)
87 Northern Sweden NC_000001.10 - 161709211 Jul 12, 2019 (153)
88 Qatari NC_000001.10 - 161709211 Apr 25, 2020 (154)
89 SGDP_PRJ NC_000001.10 - 161709211 Apr 25, 2020 (154)
90 Siberian NC_000001.10 - 161709211 Apr 25, 2020 (154)
91 8.3KJPN NC_000001.10 - 161709211 Apr 25, 2021 (155)
92 TopMed NC_000001.11 - 161739421 Apr 25, 2021 (155)
93 UK 10K study - Twins NC_000001.10 - 161709211 Oct 11, 2018 (152)
94 A Vietnamese Genetic Variation Database NC_000001.10 - 161709211 Jul 12, 2019 (153)
95 ALFA NC_000001.11 - 161739421 Apr 25, 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)
rs17406505 Oct 07, 2004 (123)
rs57335334 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
22664, ss66448741, ss76236528, ss87841946, ss108637379, ss172921378, ss276070760, ss290647316, ss479653154, ss1397261419, ss1585117770, ss1712374838 NC_000001.9:159975834:A:G NC_000001.11:161739420:A:G (self)
3923768, 2135886, 22187, 1512442, 1727811, 928232, 2512765, 813200, 1013300, 2126587, 542624, 4686688, 2135886, 457470, ss230750076, ss238394305, ss479658459, ss480171907, ss484625224, ss536747067, ss648447502, ss778397708, ss782759426, ss783725897, ss832011661, ss833852841, ss975734748, ss1068306046, ss1293125310, ss1574425184, ss1601318621, ss1644312654, ss1751876947, ss1918971370, ss2019999301, ss2148026270, ss2329465749, ss2632582791, ss2698001673, ss2761891304, ss2984882935, ss2985527255, ss2987835367, ss3343733121, ss3626222393, ss3630615242, ss3632911988, ss3633607436, ss3634354251, ss3635300838, ss3636032660, ss3637051336, ss3640061605, ss3640987787, ss3641281826, ss3653652258, ss3655774194, ss3727528335, ss3744655141, ss3746868431, ss3772156216, ss3826450181, ss3836620247, ss3850109607, ss3895335371, ss4016941032, ss5146717381 NC_000001.10:161709210:A:G NC_000001.11:161739420:A:G (self)
28510205, 186511, 21133430, 33670577, 7699169527, ss2166936224, ss3093463297, ss3687881079, ss3799868854, ss3842029784, ss4470064242 NC_000001.11:161739420:A:G NC_000001.11:161739420:A:G (self)
ss24244502, ss68782075, ss82944318, ss138091350, ss160026517 NT_004487.19:13197852:A:G NC_000001.11:161739420:A:G (self)
ss18069727 NT_004668.16:214682:A:G NC_000001.11:161739420: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.

1 citation for rs12021510
PMID Title Author Year Journal
21211013 Lack of association between genetic polymorphisms within DUSP12 - ATF6 locus and glucose metabolism related traits in a Chinese population. Hu C et al. 2011 BMC medical genetics
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