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rs1057519091

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519091(C;G)
Make rs1057519091(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position31529311
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs1057519091
dbSNP (old)rs1057519091
ClinGenrs1057519091
ebirs1057519091
HLIrs1057519091
Exacrs1057519091
Gnomadrs1057519091
Varsomers1057519091
Maprs1057519091
PheGenIrs1057519091
Biobankrs1057519091
1000 genomesrs1057519091
hgdprs1057519091
ensemblrs1057519091
gopubmedrs1057519091
geneviewrs1057519091
scholarrs1057519091
googlers1057519091
pharmgkbrs1057519091
gwascentralrs1057519091
openSNPrs1057519091
23andMers1057519091
23andMe allrs1057519091
SNPshotrs1057519091
SNPdbers1057519091
MSV3drs1057519091
GWAS Ctlgrs1057519091
Max Magnitude0
ClinVar
Risk rs1057519091(G;G)
Alt rs1057519091(G;G)
Reference Rs1057519091(C;C)
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.31754381G>C
CLNSRC
CLNACC RCV000416333.1,