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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.

rs12529

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:5094459 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.472262 (125003/264690, TOPMED)
C=0.499379 (125408/251128, GnomAD_exome)
G=0.442703 (61873/139762, GnomAD) (+ 22 more)
G=0.497833 (60420/121366, ExAC)
G=0.434200 (51253/118040, ALFA)
C=0.44523 (35039/78698, PAGE_STUDY)
C=0.11050 (1852/16760, 8.3KJPN)
G=0.43002 (5592/13004, GO-ESP)
C=0.4203 (2105/5008, 1000G)
G=0.3804 (1704/4480, Estonian)
G=0.3819 (1472/3854, ALSPAC)
G=0.3846 (1426/3708, TWINSUK)
C=0.1246 (365/2930, KOREAN)
C=0.1119 (205/1832, Korea1K)
G=0.377 (376/998, GoNL)
C=0.147 (114/778, PRJEB37584)
C=0.178 (109/612, Vietnamese)
G=0.402 (241/600, NorthernSweden)
G=0.423 (226/534, MGP)
C=0.220 (106/482, SGDP_PRJ)
C=0.424 (139/328, HapMap)
G=0.375 (114/304, FINRISK)
C=0.356 (77/216, Qatari)
C=0.26 (11/42, Siberian)
G=0.30 (12/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AKR1C3 : Missense Variant
Publications
15 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 10 NC_000010.11:g.5094459C>G
GRCh38.p13 chr 10 NC_000010.11:g.5094459C>T
GRCh37.p13 chr 10 fix patch HG871_PATCH NW_003871071.1:g.124125C>G
GRCh37.p13 chr 10 fix patch HG871_PATCH NW_003871071.1:g.124125C>T
AKR1C3 RefSeqGene NG_047094.1:g.50694C>G
AKR1C3 RefSeqGene NG_047094.1:g.50694C>T
GRCh37.p13 chr 10 NC_000010.10:g.5136651C>G
GRCh37.p13 chr 10 NC_000010.10:g.5136651C>T
Gene: AKR1C3, aldo-keto reductase family 1 member C3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AKR1C3 transcript variant 2 NM_001253908.2:c.85-1951C…

NM_001253908.2:c.85-1951C>G

N/A Intron Variant
AKR1C3 transcript variant 1 NM_003739.6:c.15C>G H [CAC] > Q [CAG] Coding Sequence Variant
aldo-keto reductase family 1 member C3 isoform 1 NP_003730.4:p.His5Gln H (His) > Q (Gln) Missense Variant
AKR1C3 transcript variant 1 NM_003739.6:c.15C>T H [CAC] > H [CAT] Coding Sequence Variant
aldo-keto reductase family 1 member C3 isoform 1 NP_003730.4:p.His5= H (His) > H (His) Synonymous Variant
AKR1C3 transcript variant 3 NM_001253909.2:c.15C>G H [CAC] > Q [CAG] Coding Sequence Variant
aldo-keto reductase family 1 member C3 isoform 3 NP_001240838.1:p.His5Gln H (His) > Q (Gln) Missense Variant
AKR1C3 transcript variant 3 NM_001253909.2:c.15C>T H [CAC] > H [CAT] Coding Sequence Variant
aldo-keto reductase family 1 member C3 isoform 3 NP_001240838.1:p.His5= H (His) > H (His) Synonymous Variant
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 118040 C=0.565800 G=0.434200
European Sub 100230 C=0.586800 G=0.413200
African Sub 4374 C=0.5270 G=0.4730
African Others Sub 174 C=0.517 G=0.483
African American Sub 4200 C=0.5274 G=0.4726
Asian Sub 3322 C=0.1261 G=0.8739
East Asian Sub 2668 C=0.1106 G=0.8894
Other Asian Sub 654 C=0.190 G=0.810
Latin American 1 Sub 790 C=0.528 G=0.472
Latin American 2 Sub 942 C=0.429 G=0.571
South Asian Sub 274 C=0.369 G=0.631
Other Sub 8108 C=0.5335 G=0.4665


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=0.527738 G=0.472262
gnomAD - Exomes Global Study-wide 251128 C=0.499379 G=0.500621
gnomAD - Exomes European Sub 135120 C=0.606283 G=0.393717
gnomAD - Exomes Asian Sub 49006 C=0.27962 G=0.72038
gnomAD - Exomes American Sub 34562 C=0.40096 G=0.59904
gnomAD - Exomes African Sub 16242 C=0.52826 G=0.47174
gnomAD - Exomes Ashkenazi Jewish Sub 10074 C=0.41116 G=0.58884
gnomAD - Exomes Other Sub 6124 C=0.5232 G=0.4768
gnomAD - Genomes Global Study-wide 139762 C=0.557297 G=0.442703
gnomAD - Genomes European Sub 75732 C=0.61031 G=0.38969
gnomAD - Genomes African Sub 41850 C=0.52547 G=0.47453
gnomAD - Genomes American Sub 13596 C=0.50096 G=0.49904
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.4058 G=0.5942
gnomAD - Genomes East Asian Sub 3114 C=0.1423 G=0.8577
gnomAD - Genomes Other Sub 2148 C=0.5009 G=0.4991
ExAC Global Study-wide 121366 C=0.502167 G=0.497833
ExAC Europe Sub 73332 C=0.58984 G=0.41016
ExAC Asian Sub 25160 C=0.28665 G=0.71335
ExAC American Sub 11560 C=0.38849 G=0.61151
ExAC African Sub 10406 C=0.52864 G=0.47136
ExAC Other Sub 908 C=0.537 G=0.463
The PAGE Study Global Study-wide 78698 C=0.44523 G=0.55477
The PAGE Study AfricanAmerican Sub 32516 C=0.52303 G=0.47697
The PAGE Study Mexican Sub 10808 C=0.39980 G=0.60020
The PAGE Study Asian Sub 8318 C=0.1206 G=0.8794
The PAGE Study PuertoRican Sub 7918 C=0.5346 G=0.4654
The PAGE Study NativeHawaiian Sub 4532 C=0.2235 G=0.7765
The PAGE Study Cuban Sub 4230 C=0.5421 G=0.4579
The PAGE Study Dominican Sub 3828 C=0.5520 G=0.4480
The PAGE Study CentralAmerican Sub 2450 C=0.4804 G=0.5196
The PAGE Study SouthAmerican Sub 1982 C=0.4758 G=0.5242
The PAGE Study NativeAmerican Sub 1260 C=0.5262 G=0.4738
The PAGE Study SouthAsian Sub 856 C=0.319 G=0.681
8.3KJPN JAPANESE Study-wide 16760 C=0.11050 G=0.88950
GO Exome Sequencing Project Global Study-wide 13004 C=0.56998 G=0.43002
GO Exome Sequencing Project European American Sub 8598 C=0.5876 G=0.4124
GO Exome Sequencing Project African American Sub 4406 C=0.5356 G=0.4644
1000Genomes Global Study-wide 5008 C=0.4203 G=0.5797
1000Genomes African Sub 1322 C=0.5431 G=0.4569
1000Genomes East Asian Sub 1008 C=0.1389 G=0.8611
1000Genomes Europe Sub 1006 C=0.5954 G=0.4046
1000Genomes South Asian Sub 978 C=0.339 G=0.661
1000Genomes American Sub 694 C=0.455 G=0.545
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.6196 G=0.3804
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6181 G=0.3819
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.6154 G=0.3846
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.1246 G=0.8754, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 C=0.1119 G=0.8881
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.623 G=0.377
CNV burdens in cranial meningiomas Global Study-wide 778 C=0.147 G=0.853
CNV burdens in cranial meningiomas CRM Sub 778 C=0.147 G=0.853
A Vietnamese Genetic Variation Database Global Study-wide 612 C=0.178 G=0.822
Northern Sweden ACPOP Study-wide 600 C=0.598 G=0.402
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.577 G=0.423
SGDP_PRJ Global Study-wide 482 C=0.220 G=0.780
HapMap Global Study-wide 328 C=0.424 G=0.576
HapMap African Sub 120 C=0.517 G=0.483
HapMap American Sub 120 C=0.600 G=0.400
HapMap Asian Sub 88 C=0.06 G=0.94
FINRISK Finnish from FINRISK project Study-wide 304 C=0.625 G=0.375
Qatari Global Study-wide 216 C=0.356 G=0.644
Siberian Global Study-wide 42 C=0.26 G=0.74
The Danish reference pan genome Danish Study-wide 40 C=0.70 G=0.30
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= G T
GRCh38.p13 chr 10 NC_000010.11:g.5094459= NC_000010.11:g.5094459C>G NC_000010.11:g.5094459C>T
GRCh37.p13 chr 10 fix patch HG871_PATCH NW_003871071.1:g.124125= NW_003871071.1:g.124125C>G NW_003871071.1:g.124125C>T
AKR1C3 RefSeqGene NG_047094.1:g.50694= NG_047094.1:g.50694C>G NG_047094.1:g.50694C>T
AKR1C3 transcript variant 1 NM_003739.6:c.15= NM_003739.6:c.15C>G NM_003739.6:c.15C>T
AKR1C3 transcript variant 1 NM_003739.5:c.15= NM_003739.5:c.15C>G NM_003739.5:c.15C>T
AKR1C3 transcript variant 3 NM_001253909.2:c.15= NM_001253909.2:c.15C>G NM_001253909.2:c.15C>T
AKR1C3 transcript variant 3 NM_001253909.1:c.15= NM_001253909.1:c.15C>G NM_001253909.1:c.15C>T
GRCh37.p13 chr 10 NC_000010.10:g.5136651= NC_000010.10:g.5136651C>G NC_000010.10:g.5136651C>T
aldo-keto reductase family 1 member C3 isoform 1 NP_003730.4:p.His5= NP_003730.4:p.His5Gln NP_003730.4:p.His5=
aldo-keto reductase family 1 member C3 isoform 3 NP_001240838.1:p.His5= NP_001240838.1:p.His5Gln NP_001240838.1:p.His5=
AKR1C3 transcript variant 2 NM_001253908.1:c.85-1951= NM_001253908.1:c.85-1951C>G NM_001253908.1:c.85-1951C>T
AKR1C3 transcript variant 2 NM_001253908.2:c.85-1951= NM_001253908.2:c.85-1951C>G NM_001253908.2:c.85-1951C>T
AKR1C3 transcript variant X1 XM_005252637.1:c.16-1951= XM_005252637.1:c.16-1951C>G XM_005252637.1:c.16-1951C>T
AKR1C3 transcript variant X1 XM_005277677.1:c.16-1951= XM_005277677.1:c.16-1951C>G XM_005277677.1:c.16-1951C>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#.

153 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1524960 Oct 13, 2000 (94)
2 TSC-CSHL ss2827711 Jan 22, 2001 (94)
3 YUSUKE ss3243083 Sep 28, 2001 (100)
4 SC_JCM ss3529113 Sep 28, 2001 (100)
5 LEE ss4415683 May 29, 2002 (106)
6 SNP500CANCER ss6903636 Mar 31, 2003 (113)
7 SC_SNP ss15593589 Feb 27, 2004 (120)
8 CSHL-HAPMAP ss16505559 Feb 27, 2004 (120)
9 CSHL-HAPMAP ss19186427 Feb 27, 2004 (120)
10 CSHL-HAPMAP ss19898583 Feb 27, 2004 (120)
11 SSAHASNP ss20683672 Apr 05, 2004 (121)
12 KYUGEN ss35074011 May 24, 2005 (125)
13 CEPH ss38343012 May 24, 2005 (125)
14 ABI ss38530440 Mar 15, 2006 (126)
15 ILLUMINA ss65725539 Oct 16, 2006 (127)
16 PERLEGEN ss69068306 May 18, 2007 (127)
17 SI_EXO ss71643788 May 18, 2007 (127)
18 AFFY ss74810369 Aug 16, 2007 (128)
19 ILLUMINA ss74874996 Dec 07, 2007 (129)
20 HGSV ss77657095 Dec 07, 2007 (129)
21 HGSV ss83674767 Dec 15, 2007 (130)
22 HGSV ss84521046 Dec 15, 2007 (130)
23 CORNELL ss86272204 Mar 23, 2008 (129)
24 BGI ss102849283 Dec 01, 2009 (131)
25 1000GENOMES ss109186293 Jan 23, 2009 (130)
26 1000GENOMES ss115290163 Jan 25, 2009 (130)
27 ILLUMINA ss120035934 Dec 01, 2009 (131)
28 ENSEMBL ss131902648 Dec 01, 2009 (131)
29 GMI ss158129838 Dec 01, 2009 (131)
30 SEATTLESEQ ss159719866 Dec 01, 2009 (131)
31 ILLUMINA ss160279572 Dec 01, 2009 (131)
32 COMPLETE_GENOMICS ss167715291 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss168949798 Jul 04, 2010 (132)
34 COMPLETE_GENOMICS ss170339301 Jul 04, 2010 (132)
35 ILLUMINA ss172138871 Jul 04, 2010 (132)
36 BUSHMAN ss201083057 Jul 04, 2010 (132)
37 1000GENOMES ss224538680 Jul 14, 2010 (132)
38 1000GENOMES ss235032973 Jul 15, 2010 (132)
39 1000GENOMES ss241769685 Jul 15, 2010 (132)
40 BL ss254014689 May 09, 2011 (134)
41 GMI ss280459643 May 04, 2012 (137)
42 GMI ss286120056 Apr 25, 2013 (138)
43 PJP ss290897635 May 09, 2011 (134)
44 NHLBI-ESP ss342291602 May 09, 2011 (134)
45 ILLUMINA ss479764051 May 04, 2012 (137)
46 ILLUMINA ss479770186 May 04, 2012 (137)
47 ILLUMINA ss480334969 Sep 11, 2015 (146)
48 ILLUMINA ss484680385 May 04, 2012 (137)
49 1000GENOMES ss490991487 May 04, 2012 (137)
50 EXOME_CHIP ss491432042 May 04, 2012 (137)
51 CLINSEQ_SNP ss491620596 May 04, 2012 (137)
52 ILLUMINA ss536791259 Sep 11, 2015 (146)
53 TISHKOFF ss561738761 Apr 25, 2013 (138)
54 SSMP ss656243471 Apr 25, 2013 (138)
55 ILLUMINA ss778342337 Aug 21, 2014 (142)
56 ILLUMINA ss780883983 Aug 21, 2014 (142)
57 ILLUMINA ss782787021 Aug 21, 2014 (142)
58 ILLUMINA ss783569994 Aug 21, 2014 (142)
59 ILLUMINA ss783752833 Aug 21, 2014 (142)
60 ILLUMINA ss832039693 Apr 09, 2015 (144)
61 ILLUMINA ss833796948 Aug 21, 2014 (142)
62 JMKIDD_LAB ss974473717 Aug 21, 2014 (142)
63 EVA-GONL ss987146334 Aug 21, 2014 (142)
64 JMKIDD_LAB ss1067510450 Aug 21, 2014 (142)
65 JMKIDD_LAB ss1076723164 Aug 21, 2014 (142)
66 1000GENOMES ss1336090828 Aug 21, 2014 (142)
67 DDI ss1426204794 Apr 09, 2015 (144)
68 EVA_GENOME_DK ss1574879419 Apr 09, 2015 (144)
69 EVA_FINRISK ss1584066546 Apr 09, 2015 (144)
70 EVA_DECODE ss1596793421 Apr 01, 2015 (144)
71 EVA_UK10K_ALSPAC ss1623891021 Apr 09, 2015 (144)
72 EVA_UK10K_TWINSUK ss1666885054 Apr 09, 2015 (144)
73 EVA_EXAC ss1689799340 Apr 09, 2015 (144)
74 EVA_MGP ss1711246234 Apr 09, 2015 (144)
75 ILLUMINA ss1751970869 Sep 11, 2015 (146)
76 ILLUMINA ss1751970870 Sep 11, 2015 (146)
77 HAMMER_LAB ss1806233283 Sep 11, 2015 (146)
78 ILLUMINA ss1917844228 Feb 17, 2016 (147)
79 WEILL_CORNELL_DGM ss1930466141 Feb 17, 2016 (147)
80 ILLUMINA ss1946274696 Feb 17, 2016 (147)
81 ILLUMINA ss1959235741 Feb 17, 2016 (147)
82 GENOMED ss1967046706 Sep 28, 2016 (149)
83 JJLAB ss2025955609 Sep 28, 2016 (149)
84 USC_VALOUEV ss2154196965 Oct 12, 2018 (152)
85 HUMAN_LONGEVITY ss2172281554 Dec 20, 2016 (150)
86 TOPMED ss2334989120 Oct 12, 2018 (152)
87 SYSTEMSBIOZJU ss2627446461 Oct 12, 2018 (152)
88 ILLUMINA ss2632668011 Oct 12, 2018 (152)
89 ILLUMINA ss2635009977 Nov 08, 2017 (151)
90 GRF ss2698420382 Oct 12, 2018 (152)
91 GNOMAD ss2738087130 Oct 12, 2018 (152)
92 GNOMAD ss2748338749 Oct 12, 2018 (152)
93 GNOMAD ss2884998543 Oct 12, 2018 (152)
94 AFFY ss2984903948 Oct 12, 2018 (152)
95 AFFY ss2985549663 Oct 12, 2018 (152)
96 SWEGEN ss3005857967 Oct 12, 2018 (152)
97 ILLUMINA ss3021209533 Oct 12, 2018 (152)
98 ILLUMINA ss3021209534 Oct 12, 2018 (152)
99 EVA_SAMSUNG_MC ss3023065350 Oct 12, 2018 (152)
100 BIOINF_KMB_FNS_UNIBA ss3026761004 Nov 08, 2017 (151)
101 TOPMED ss3110422538 Nov 08, 2017 (151)
102 CSHL ss3348935960 Oct 12, 2018 (152)
103 ILLUMINA ss3626375113 Oct 12, 2018 (152)
104 ILLUMINA ss3626375114 Oct 12, 2018 (152)
105 ILLUMINA ss3630696028 Oct 12, 2018 (152)
106 ILLUMINA ss3632936500 Oct 12, 2018 (152)
107 ILLUMINA ss3633633077 Oct 12, 2018 (152)
108 ILLUMINA ss3634387653 Oct 12, 2018 (152)
109 ILLUMINA ss3635325927 Oct 12, 2018 (152)
110 ILLUMINA ss3636067500 Oct 12, 2018 (152)
111 ILLUMINA ss3637076506 Oct 12, 2018 (152)
112 ILLUMINA ss3637830874 Oct 12, 2018 (152)
113 ILLUMINA ss3640095001 Oct 12, 2018 (152)
114 ILLUMINA ss3642835993 Oct 12, 2018 (152)
115 OMUKHERJEE_ADBS ss3646402150 Oct 12, 2018 (152)
116 URBANLAB ss3649277474 Oct 12, 2018 (152)
117 ILLUMINA ss3651556624 Oct 12, 2018 (152)
118 ILLUMINA ss3651556625 Oct 12, 2018 (152)
119 ILLUMINA ss3653673643 Oct 12, 2018 (152)
120 EGCUT_WGS ss3673385580 Jul 13, 2019 (153)
121 EVA_DECODE ss3689184835 Jul 13, 2019 (153)
122 ILLUMINA ss3725131189 Jul 13, 2019 (153)
123 ACPOP ss3737016135 Jul 13, 2019 (153)
124 ILLUMINA ss3744363637 Jul 13, 2019 (153)
125 ILLUMINA ss3744688525 Jul 13, 2019 (153)
126 EVA ss3747686087 Jul 13, 2019 (153)
127 PAGE_CC ss3771538509 Jul 13, 2019 (153)
128 ILLUMINA ss3772189242 Jul 13, 2019 (153)
129 ILLUMINA ss3772189243 Jul 13, 2019 (153)
130 PACBIO ss3786566992 Jul 13, 2019 (153)
131 PACBIO ss3791761250 Jul 13, 2019 (153)
132 PACBIO ss3796643031 Jul 13, 2019 (153)
133 KHV_HUMAN_GENOMES ss3813048829 Jul 13, 2019 (153)
134 EVA ss3824497035 Apr 26, 2020 (154)
135 EVA ss3825526220 Apr 26, 2020 (154)
136 EVA ss3825541772 Apr 26, 2020 (154)
137 EVA ss3825770336 Apr 26, 2020 (154)
138 EVA ss3831940695 Apr 26, 2020 (154)
139 EVA ss3839500261 Apr 26, 2020 (154)
140 EVA ss3844966121 Apr 26, 2020 (154)
141 SGDP_PRJ ss3873430407 Apr 26, 2020 (154)
142 KRGDB ss3921363999 Apr 26, 2020 (154)
143 KOGIC ss3967110266 Apr 26, 2020 (154)
144 FSA-LAB ss3983971862 Apr 26, 2021 (155)
145 EVA ss3984628877 Apr 26, 2021 (155)
146 EVA ss3986048974 Apr 26, 2021 (155)
147 EVA ss3986474509 Apr 26, 2021 (155)
148 EVA ss4017467671 Apr 26, 2021 (155)
149 GNOMAD ss4212129560 Apr 26, 2021 (155)
150 TOPMED ss4840932362 Apr 26, 2021 (155)
151 TOMMO_GENOMICS ss5196049698 Apr 26, 2021 (155)
152 EVA ss5236881618 Apr 26, 2021 (155)
153 EVA ss5237207403 Apr 26, 2021 (155)
154 1000Genomes NC_000010.10 - 5136651 Oct 12, 2018 (152)
155 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 5136651 Oct 12, 2018 (152)
156 Genetic variation in the Estonian population NC_000010.10 - 5136651 Oct 12, 2018 (152)
157 ExAC NC_000010.10 - 5136651 Oct 12, 2018 (152)
158 FINRISK NC_000010.10 - 5136651 Apr 26, 2020 (154)
159 The Danish reference pan genome NC_000010.10 - 5136651 Apr 26, 2020 (154)
160 gnomAD - Genomes NC_000010.11 - 5094459 Apr 26, 2021 (155)
161 gnomAD - Exomes NC_000010.10 - 5136651 Jul 13, 2019 (153)
162 GO Exome Sequencing Project NC_000010.10 - 5136651 Oct 12, 2018 (152)
163 Genome of the Netherlands Release 5 NC_000010.10 - 5136651 Apr 26, 2020 (154)
164 HapMap NC_000010.11 - 5094459 Apr 26, 2020 (154)
165 KOREAN population from KRGDB NC_000010.10 - 5136651 Apr 26, 2020 (154)
166 Korean Genome Project NC_000010.11 - 5094459 Apr 26, 2020 (154)
167 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 5136651 Apr 26, 2020 (154)
168 Northern Sweden NC_000010.10 - 5136651 Jul 13, 2019 (153)
169 The PAGE Study NC_000010.11 - 5094459 Jul 13, 2019 (153)
170 CNV burdens in cranial meningiomas NC_000010.10 - 5136651 Apr 26, 2021 (155)
171 Qatari NC_000010.10 - 5136651 Apr 26, 2020 (154)
172 SGDP_PRJ NC_000010.10 - 5136651 Apr 26, 2020 (154)
173 Siberian NC_000010.10 - 5136651 Apr 26, 2020 (154)
174 8.3KJPN NC_000010.10 - 5136651 Apr 26, 2021 (155)
175 TopMed NC_000010.11 - 5094459 Apr 26, 2021 (155)
176 UK 10K study - Twins NC_000010.10 - 5136651 Oct 12, 2018 (152)
177 A Vietnamese Genetic Variation Database NC_000010.10 - 5136651 Jul 13, 2019 (153)
178 ALFA NC_000010.11 - 5094459 Apr 26, 2021 (155)
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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)
rs1131108 Apr 12, 2001 (94)
rs3190662 Jul 03, 2002 (106)
rs52833180 Sep 21, 2007 (128)
rs60646959 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77657095, ss83674767, ss84521046 NC_000010.8:5126650:C:G NC_000010.11:5094458:C:G (self)
ss109186293, ss115290163, ss160279572, ss167715291, ss168949798, ss170339301, ss201083057, ss254014689, ss280459643, ss286120056, ss290897635, ss479764051, ss491620596, ss1596793421, ss2635009977, ss3642835993 NC_000010.9:5126650:C:G NC_000010.11:5094458:C:G (self)
48430627, 26909087, 19123828, 12118, 63007, 2008978, 7279859, 954758, 12001704, 28541393, 361994, 10301000, 178332, 12508071, 25447387, 6713319, 54019005, 26909087, 5972652, ss224538680, ss235032973, ss241769685, ss342291602, ss479770186, ss480334969, ss484680385, ss490991487, ss491432042, ss536791259, ss561738761, ss656243471, ss778342337, ss780883983, ss782787021, ss783569994, ss783752833, ss832039693, ss833796948, ss974473717, ss987146334, ss1067510450, ss1076723164, ss1336090828, ss1426204794, ss1574879419, ss1584066546, ss1623891021, ss1666885054, ss1689799340, ss1711246234, ss1751970869, ss1751970870, ss1806233283, ss1917844228, ss1930466141, ss1946274696, ss1959235741, ss1967046706, ss2025955609, ss2154196965, ss2334989120, ss2627446461, ss2632668011, ss2698420382, ss2738087130, ss2748338749, ss2884998543, ss2984903948, ss2985549663, ss3005857967, ss3021209533, ss3021209534, ss3023065350, ss3348935960, ss3626375113, ss3626375114, ss3630696028, ss3632936500, ss3633633077, ss3634387653, ss3635325927, ss3636067500, ss3637076506, ss3637830874, ss3640095001, ss3646402150, ss3651556624, ss3651556625, ss3653673643, ss3673385580, ss3737016135, ss3744363637, ss3744688525, ss3747686087, ss3772189242, ss3772189243, ss3786566992, ss3791761250, ss3796643031, ss3824497035, ss3825526220, ss3825541772, ss3825770336, ss3831940695, ss3839500261, ss3873430407, ss3921363999, ss3983971862, ss3984628877, ss3986048974, ss3986474509, ss4017467671, ss5196049698 NC_000010.10:5136650:C:G NC_000010.11:5094458:C:G (self)
342145756, 327753, 23488267, 759978, 35487833, 56478017, 4149868121, ss2172281554, ss3026761004, ss3110422538, ss3649277474, ss3689184835, ss3725131189, ss3771538509, ss3813048829, ss3844966121, ss3967110266, ss4212129560, ss4840932362, ss5236881618, ss5237207403 NC_000010.11:5094458:C:G NC_000010.11:5094458:C:G (self)
ss1524960, ss2827711, ss3243083, ss3529113, ss4415683, ss6903636, ss35074011, ss38343012, ss38530440, ss65725539, ss69068306, ss74810369, ss74874996, ss86272204, ss102849283, ss120035934, ss131902648, ss158129838, ss159719866, ss172138871 NT_008705.16:5076650:C:G NC_000010.11:5094458:C:G (self)
ss15593589, ss16505559, ss19186427, ss19898583, ss20683672, ss71643788 NT_077567.3:5076650:C:G NC_000010.11:5094458:C:G (self)
28541393, ss3921363999 NC_000010.10:5136650:C:T NC_000010.11:5094458:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

15 citations for rs12529
PMID Title Author Year Journal
15911586 Effects of natural selection on interpopulation divergence at polymorphic sites in human protein-coding Loci. Hughes AL et al. 2005 Genetics
17940109 Nonreplication of the type 5 17beta-hydroxysteroid dehydrogenase gene association with polycystic ovary syndrome. Goodarzi MO et al. 2008 The Journal of clinical endocrinology and metabolism
18339682 Maternal and offspring genetic variants of AKR1C3 and the risk of childhood leukemia. Liu CY et al. 2008 Carcinogenesis
18632753 Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes. Figueroa JD et al. 2008 Carcinogenesis
19423521 Genetic polymorphisms in nitric oxide synthase genes modify the relationship between vegetable and fruit intake and risk of non-Hodgkin lymphoma. Han X et al. 2009 Cancer epidemiology, biomarkers & prevention
21323680 Variation in genes encoding the neuroactive steroid synthetic enzymes 5α-reductase type 1 and 3α-reductase type 2 is associated with alcohol dependence. Milivojevic V et al. 2011 Alcoholism, clinical and experimental research
25422294 Association analysis between the polymorphisms of HSD17B5 and HSD17B6 and risk of polycystic ovary syndrome in Chinese population. Ju R et al. 2015 European journal of endocrinology
27085562 Association of AKR1C3 Polymorphisms with Bladder Cancer. Tiryakioglu NO et al. 2016 Urology journal
27485119 Quality of life effects of androgen deprivation therapy in a prostate cancer cohort in New Zealand: can we minimize effects using a stratification based on the aldo-keto reductase family 1, member C3 rs12529 gene polymorphism? Karunasinghe N et al. 2016 BMC urology
28704416 Genetic variation in the eicosanoid pathway is associated with non-small-cell lung cancer (NSCLC) survival. Sausville LN et al. 2017 PloS one
29303622 Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers. Kamble PG et al. 2017 Upsala journal of medical sciences
29920655 Genetic contribution of suppressor of cytokine signalling polymorphisms to the susceptibility to infection after traumatic injury. Zhang A et al. 2018 Clinical and experimental immunology
31125365 Interaction between leukocyte aldo-keto reductase 1C3 activity, genotypes, biological, lifestyle and clinical features in a prostate cancer cohort from New Zealand. Karunasinghe N et al. 2019 PloS one
32712140 Polymorphisms in androgen metabolism genes with serum testosterone levels and prognosis in androgen-deprivation therapy. Shiota M et al. 2020 Urologic oncology
33649516 The association between missense polymorphisms in SRD5A2 and HSD3B1 and treatment failure with abiraterone for castration-resistant prostate cancer. Shiota M et al. 2021 The pharmacogenomics journal
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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