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rs1057519061

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519061(G;G)
Make rs1057519061(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position31529466
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs1057519061
dbSNP (old)rs1057519061
ClinGenrs1057519061
ebirs1057519061
HLIrs1057519061
Exacrs1057519061
Gnomadrs1057519061
Varsomers1057519061
Maprs1057519061
PheGenIrs1057519061
Biobankrs1057519061
1000 genomesrs1057519061
hgdprs1057519061
ensemblrs1057519061
gopubmedrs1057519061
geneviewrs1057519061
scholarrs1057519061
googlers1057519061
pharmgkbrs1057519061
gwascentralrs1057519061
openSNPrs1057519061
23andMers1057519061
23andMe allrs1057519061
SNPshotrs1057519061
SNPdbers1057519061
MSV3drs1057519061
GWAS Ctlgrs1057519061
Max Magnitude0
ClinVar
Risk rs1057519061(G;G)
Alt rs1057519061(G;G)
Reference Rs1057519061(T;T)
Significance Pathogenic
Disease 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Variation info
Gene SRD5A2
CLNDBN 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
Reversed 1
HGVS NC_000002.11:g.31754536A>C
CLNSRC
CLNACC RCV000416356.1,