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rs9332964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 micropenis
(A;G) 2.5 carrier for mutations linked to micropenis
(G;G) 0 average
ReferenceGRCh38 38.1/141
Chromosome2
Position31529325
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs9332964
ebirs9332964
HLIrs9332964
Exacrs9332964
Varsomers9332964
Maprs9332964
PheGenIrs9332964
hapmaprs9332964
1000 genomesrs9332964
hgdprs9332964
ensemblrs9332964
gopubmedrs9332964
geneviewrs9332964
scholarrs9332964
googlers9332964
pharmgkbrs9332964
gwascentralrs9332964
openSNPrs9332964
23andMers9332964
23andMe allrs9332964
SNP Nexus

SNPshotrs9332964
SNPdbers9332964
MSV3drs9332964
GWAS Ctlgrs9332964
GMAF0.0009183
Max Magnitude4
rs9332964 is a nonsynonymous change known as R227Q in the SRD5A2 gene. The SRD5A2 gene encodes steroid 5-alpha-reductase, an enzyme which catalyzes the conversion of testosterone in the body. Polymorphisms in SRD5A2 have been implicated in several disorders of male sexual development such as micropenis. The homozygous rs9332964(A;A) genotype has been observed in several Japenese males with micropenis. [PMID 12843198]
OMIM607306
DescMICROPENIS
Variant0016
Relatedalso


ClinVar
Risk rs9332964(A;A)
Alt rs9332964(A;A)
Reference rs9332964(G;G)
Significance Pathogenic
Disease Micropenis not provided
Variation info
Gene SRD5A2
CLNDBN Micropenis not provided
Reversed 1
HGVS NC_000002.11:g.31754395C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003515.3, RCV000083663.1,



[PMID 18163429OA-icon.png] Genetic polymorphisms in CYP17, CYP3A4, CYP19A1, SRD5A2, IGF-1, and IGFBP-3 and prostate cancer risk in African-American men: the Flint Men's Health Study.