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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.

rs12029632

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:167174044 (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>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.292939 (77538/264690, TOPMED)
T=0.285297 (39193/137376, GnomAD)
T=0.25936 (22602/87146, ALFA) (+ 17 more)
C=0.40913 (6857/16760, 8.3KJPN)
T=0.3730 (1868/5008, 1000G)
T=0.2471 (1107/4480, Estonian)
T=0.2711 (1045/3854, ALSPAC)
T=0.2732 (1013/3708, TWINSUK)
C=0.3546 (1039/2930, KOREAN)
T=0.3781 (788/2084, HGDP_Stanford)
T=0.3840 (725/1888, HapMap)
T=0.2989 (339/1134, Daghestan)
T=0.257 (256/998, GoNL)
T=0.275 (165/600, NorthernSweden)
C=0.334 (111/332, SGDP_PRJ)
T=0.259 (56/216, Qatari)
T=0.20 (8/40, GENOME_DK)
C=0.39 (15/38, Siberian)
C=0.50 (6/12, Ancient Sardinia)
T=0.50 (6/12, Ancient Sardinia)
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 1 NC_000001.11:g.167174044C>A
GRCh38.p13 chr 1 NC_000001.11:g.167174044C>G
GRCh38.p13 chr 1 NC_000001.11:g.167174044C>T
GRCh37.p13 chr 1 NC_000001.10:g.167143281C>A
GRCh37.p13 chr 1 NC_000001.10:g.167143281C>G
GRCh37.p13 chr 1 NC_000001.10:g.167143281C>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
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 87146 C=0.74064 A=0.00000, T=0.25936
European Sub 72214 C=0.74171 A=0.00000, T=0.25829
African Sub 6158 C=0.7535 A=0.0000, T=0.2465
African Others Sub 226 C=0.801 A=0.000, T=0.199
African American Sub 5932 C=0.7517 A=0.0000, T=0.2483
Asian Sub 104 C=0.394 A=0.000, T=0.606
East Asian Sub 82 C=0.39 A=0.00, T=0.61
Other Asian Sub 22 C=0.41 A=0.00, T=0.59
Latin American 1 Sub 194 C=0.809 A=0.000, T=0.191
Latin American 2 Sub 1108 C=0.8673 A=0.0000, T=0.1327
South Asian Sub 4914 C=0.6966 A=0.0000, T=0.3034
Other Sub 2454 C=0.7172 A=0.0000, T=0.2828


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=0.707061 T=0.292939
gnomAD - Genomes Global Study-wide 137376 C=0.714703 T=0.285297
gnomAD - Genomes European Sub 74672 C=0.72903 T=0.27097
gnomAD - Genomes African Sub 40860 C=0.70781 T=0.29219
gnomAD - Genomes American Sub 13334 C=0.77599 T=0.22401
gnomAD - Genomes Ashkenazi Jewish Sub 3308 C=0.6439 T=0.3561
gnomAD - Genomes East Asian Sub 3088 C=0.2908 T=0.7092
gnomAD - Genomes Other Sub 2114 C=0.6854 T=0.3146
8.3KJPN JAPANESE Study-wide 16760 C=0.40913 T=0.59087
1000Genomes Global Study-wide 5008 C=0.6270 T=0.3730
1000Genomes African Sub 1322 C=0.6868 T=0.3132
1000Genomes East Asian Sub 1008 C=0.2827 T=0.7173
1000Genomes Europe Sub 1006 C=0.7147 T=0.2853
1000Genomes South Asian Sub 978 C=0.688 T=0.312
1000Genomes American Sub 694 C=0.800 T=0.200
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.7529 T=0.2471
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.7289 T=0.2711
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.7268 T=0.2732
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.3546 A=0.0000, G=0.0000, T=0.6454
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.6219 T=0.3781
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.374 T=0.626
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.655 T=0.345
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.634 T=0.366
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.731 T=0.269
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.674 T=0.326
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.926 T=0.074
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.42 T=0.58
HapMap Global Study-wide 1888 C=0.6160 T=0.3840
HapMap American Sub 768 C=0.629 T=0.371
HapMap African Sub 692 C=0.688 T=0.312
HapMap Asian Sub 252 C=0.361 T=0.639
HapMap Europe Sub 176 C=0.642 T=0.358
Genome-wide autozygosity in Daghestan Global Study-wide 1134 C=0.7011 T=0.2989
Genome-wide autozygosity in Daghestan Daghestan Sub 626 C=0.704 T=0.296
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.694 T=0.306
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.648 T=0.352
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.759 T=0.241
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.70 T=0.30
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.67 T=0.33
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.743 T=0.257
Northern Sweden ACPOP Study-wide 600 C=0.725 T=0.275
SGDP_PRJ Global Study-wide 332 C=0.334 T=0.666
Qatari Global Study-wide 216 C=0.741 T=0.259
The Danish reference pan genome Danish Study-wide 40 C=0.80 T=0.20
Siberian Global Study-wide 38 C=0.39 T=0.61
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 12 C=0.50 T=0.50
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 T
GRCh38.p13 chr 1 NC_000001.11:g.167174044= NC_000001.11:g.167174044C>A NC_000001.11:g.167174044C>G NC_000001.11:g.167174044C>T
GRCh37.p13 chr 1 NC_000001.10:g.167143281= NC_000001.10:g.167143281C>A NC_000001.10:g.167143281C>G NC_000001.10:g.167143281C>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#.

81 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18085163 Feb 28, 2004 (120)
2 PERLEGEN ss23145067 Sep 20, 2004 (123)
3 ILLUMINA ss66976531 Dec 02, 2006 (127)
4 ILLUMINA ss67147825 Dec 02, 2006 (127)
5 ILLUMINA ss68119541 Dec 12, 2006 (127)
6 PERLEGEN ss68783615 May 18, 2007 (127)
7 ILLUMINA ss70552707 May 26, 2008 (130)
8 ILLUMINA ss71088853 May 18, 2007 (127)
9 ILLUMINA ss75586326 Dec 07, 2007 (129)
10 KRIBB_YJKIM ss85174226 Dec 16, 2007 (130)
11 1000GENOMES ss108672644 Jan 23, 2009 (130)
12 ILLUMINA ss153116287 Dec 01, 2009 (131)
13 GMI ss155884295 Dec 01, 2009 (131)
14 ILLUMINA ss159200640 Dec 01, 2009 (131)
15 ILLUMINA ss171800135 Jul 04, 2010 (132)
16 BUSHMAN ss199198674 Jul 04, 2010 (132)
17 1000GENOMES ss218698188 Jul 14, 2010 (132)
18 1000GENOMES ss230767078 Jul 14, 2010 (132)
19 1000GENOMES ss238408304 Jul 15, 2010 (132)
20 BL ss253580857 May 09, 2011 (134)
21 GMI ss276088402 May 04, 2012 (137)
22 GMI ss284169087 Apr 25, 2013 (138)
23 ILLUMINA ss482132488 May 04, 2012 (137)
24 ILLUMINA ss483074253 May 04, 2012 (137)
25 ILLUMINA ss535204872 Sep 08, 2015 (146)
26 TISHKOFF ss554808025 Apr 25, 2013 (138)
27 SSMP ss648475480 Apr 25, 2013 (138)
28 ILLUMINA ss780141393 Sep 08, 2015 (146)
29 ILLUMINA ss781980572 Sep 08, 2015 (146)
30 ILLUMINA ss832713095 Jul 12, 2019 (153)
31 ILLUMINA ss835624777 Sep 08, 2015 (146)
32 EVA-GONL ss975776387 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1068337183 Aug 21, 2014 (142)
34 1000GENOMES ss1293281473 Aug 21, 2014 (142)
35 HAMMER_LAB ss1397262959 Sep 08, 2015 (146)
36 DDI ss1426006467 Apr 01, 2015 (144)
37 EVA_GENOME_DK ss1574452584 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1601403269 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1644397302 Apr 01, 2015 (144)
40 EVA_SVP ss1712378621 Apr 01, 2015 (144)
41 HAMMER_LAB ss1795217978 Sep 08, 2015 (146)
42 WEILL_CORNELL_DGM ss1919012627 Feb 12, 2016 (147)
43 JJLAB ss2020021898 Sep 14, 2016 (149)
44 USC_VALOUEV ss2148049134 Dec 20, 2016 (150)
45 HUMAN_LONGEVITY ss2167251122 Dec 20, 2016 (150)
46 TOPMED ss2329787238 Dec 20, 2016 (150)
47 SYSTEMSBIOZJU ss2624520583 Nov 08, 2017 (151)
48 ILLUMINA ss2632588220 Nov 08, 2017 (151)
49 GRF ss2698026553 Nov 08, 2017 (151)
50 GNOMAD ss2762317804 Nov 08, 2017 (151)
51 SWEGEN ss2987896398 Nov 08, 2017 (151)
52 BIOINF_KMB_FNS_UNIBA ss3023768886 Nov 08, 2017 (151)
53 TOPMED ss3094437226 Nov 08, 2017 (151)
54 CSHL ss3343752796 Nov 08, 2017 (151)
55 ILLUMINA ss3626231770 Oct 11, 2018 (152)
56 ILLUMINA ss3630620328 Oct 11, 2018 (152)
57 ILLUMINA ss3637793448 Oct 11, 2018 (152)
58 ILLUMINA ss3638913329 Oct 11, 2018 (152)
59 ILLUMINA ss3639768716 Oct 11, 2018 (152)
60 ILLUMINA ss3641621751 Oct 11, 2018 (152)
61 ILLUMINA ss3642802127 Oct 11, 2018 (152)
62 ILLUMINA ss3643822053 Oct 11, 2018 (152)
63 ILLUMINA ss3653653367 Oct 11, 2018 (152)
64 EGCUT_WGS ss3655839380 Jul 12, 2019 (153)
65 EVA_DECODE ss3687956561 Jul 12, 2019 (153)
66 ACPOP ss3727564155 Jul 12, 2019 (153)
67 EVA ss3746917686 Jul 12, 2019 (153)
68 PACBIO ss3783592169 Jul 12, 2019 (153)
69 PACBIO ss3789219657 Jul 12, 2019 (153)
70 PACBIO ss3794091679 Jul 12, 2019 (153)
71 KHV_HUMAN_GENOMES ss3799918384 Jul 12, 2019 (153)
72 EVA ss3826471414 Apr 25, 2020 (154)
73 EVA ss3836631844 Apr 25, 2020 (154)
74 EVA ss3842041687 Apr 25, 2020 (154)
75 HGDP ss3847352744 Apr 25, 2020 (154)
76 SGDP_PRJ ss3850189768 Apr 25, 2020 (154)
77 KRGDB ss3895422260 Apr 25, 2020 (154)
78 EVA ss3984831623 Apr 25, 2021 (155)
79 EVA ss4016943471 Apr 25, 2021 (155)
80 TOPMED ss4471402795 Apr 25, 2021 (155)
81 TOMMO_GENOMICS ss5146886154 Apr 25, 2021 (155)
82 1000Genomes NC_000001.10 - 167143281 Oct 11, 2018 (152)
83 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 167143281 Oct 11, 2018 (152)
84 Genome-wide autozygosity in Daghestan NC_000001.9 - 165409905 Apr 25, 2020 (154)
85 Genetic variation in the Estonian population NC_000001.10 - 167143281 Oct 11, 2018 (152)
86 The Danish reference pan genome NC_000001.10 - 167143281 Apr 25, 2020 (154)
87 gnomAD - Genomes NC_000001.11 - 167174044 Apr 25, 2021 (155)
88 Genome of the Netherlands Release 5 NC_000001.10 - 167143281 Apr 25, 2020 (154)
89 HGDP-CEPH-db Supplement 1 NC_000001.9 - 165409905 Apr 25, 2020 (154)
90 HapMap NC_000001.11 - 167174044 Apr 25, 2020 (154)
91 KOREAN population from KRGDB NC_000001.10 - 167143281 Apr 25, 2020 (154)
92 Northern Sweden NC_000001.10 - 167143281 Jul 12, 2019 (153)
93 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 167143281 Apr 25, 2021 (155)
94 Qatari NC_000001.10 - 167143281 Apr 25, 2020 (154)
95 SGDP_PRJ NC_000001.10 - 167143281 Apr 25, 2020 (154)
96 Siberian NC_000001.10 - 167143281 Apr 25, 2020 (154)
97 8.3KJPN NC_000001.10 - 167143281 Apr 25, 2021 (155)
98 TopMed NC_000001.11 - 167174044 Apr 25, 2021 (155)
99 UK 10K study - Twins NC_000001.10 - 167143281 Oct 11, 2018 (152)
100 ALFA NC_000001.11 - 167174044 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)
rs61411073 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2599654, ss3895422260 NC_000001.10:167143280:C:A NC_000001.11:167174043:C:A (self)
10393443864 NC_000001.11:167174043:C:A NC_000001.11:167174043:C:A
2599654, ss3895422260 NC_000001.10:167143280:C:G NC_000001.11:167174043:C:G (self)
ss3638913329, ss3639768716, ss3643822053 NC_000001.8:163874938:C:T NC_000001.11:167174043:C:T (self)
24179, 30636, ss108672644, ss199198674, ss253580857, ss276088402, ss284169087, ss482132488, ss1397262959, ss1712378621, ss3642802127, ss3847352744 NC_000001.9:165409904:C:T NC_000001.11:167174043:C:T (self)
4085390, 2228516, 1577628, 1745251, 969152, 2599654, 849020, 57550, 1054557, 2206748, 565488, 4855461, 2228516, ss218698188, ss230767078, ss238408304, ss483074253, ss535204872, ss554808025, ss648475480, ss780141393, ss781980572, ss832713095, ss835624777, ss975776387, ss1068337183, ss1293281473, ss1426006467, ss1574452584, ss1601403269, ss1644397302, ss1795217978, ss1919012627, ss2020021898, ss2148049134, ss2329787238, ss2624520583, ss2632588220, ss2698026553, ss2762317804, ss2987896398, ss3343752796, ss3626231770, ss3630620328, ss3637793448, ss3641621751, ss3653653367, ss3655839380, ss3727564155, ss3746917686, ss3783592169, ss3789219657, ss3794091679, ss3826471414, ss3836631844, ss3850189768, ss3895422260, ss3984831623, ss4016943471, ss5146886154 NC_000001.10:167143280:C:T NC_000001.11:167174043:C:T (self)
29598018, 196159, 21974235, 35009130, 10393443864, ss2167251122, ss3023768886, ss3094437226, ss3687956561, ss3799918384, ss3842041687, ss4471402795 NC_000001.11:167174043:C:T NC_000001.11:167174043:C:T (self)
ss23145067, ss66976531, ss67147825, ss68119541, ss68783615, ss70552707, ss71088853, ss75586326, ss85174226, ss153116287, ss155884295, ss159200640, ss171800135 NT_004487.19:18631922:C:T NC_000001.11:167174043:C:T (self)
ss18085163 NT_004668.16:5648752:C:T NC_000001.11:167174043: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 rs12029632

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