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rs1060499834

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060499834(C;T)
Make rs1060499834(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position31580690
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs1060499834
dbSNP (old)rs1060499834
ClinGenrs1060499834
ebirs1060499834
HLIrs1060499834
Exacrs1060499834
Gnomadrs1060499834
Varsomers1060499834
LitVarrs1060499834
Maprs1060499834
PheGenIrs1060499834
Biobankrs1060499834
1000 genomesrs1060499834
hgdprs1060499834
ensemblrs1060499834
gopubmedrs1060499834
geneviewrs1060499834
scholarrs1060499834
googlers1060499834
pharmgkbrs1060499834
gwascentralrs1060499834
openSNPrs1060499834
23andMers1060499834
23andMe allrs1060499834
SNPshotrs1060499834
SNPdbers1060499834
MSV3drs1060499834
GWAS Ctlgrs1060499834
Max Magnitude0
ClinVar
Risk rs1060499834(T;T)
Alt rs1060499834(T;T)
Reference Rs1060499834(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.31805760G>A
CLNSRC
CLNACC RCV000469192.1,