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rs587776567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776567(-;-)
Make rs587776567(-;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position31526208
GeneSRD5A2
is asnp
is mentioned by
dbSNPrs587776567
ebirs587776567
HLIrs587776567
Exacrs587776567
Varsomers587776567
Maprs587776567
PheGenIrs587776567
hapmaprs587776567
1000 genomesrs587776567
hgdprs587776567
ensemblrs587776567
gopubmedrs587776567
geneviewrs587776567
scholarrs587776567
googlers587776567
pharmgkbrs587776567
gwascentralrs587776567
openSNPrs587776567
23andMers587776567
23andMe allrs587776567
SNP Nexus

SNPshotrs587776567
SNPdbers587776567
MSV3drs587776567
GWAS Ctlgrs587776567
Max Magnitude0
ClinVar
Risk rs587776567(TT,T;TT,T)
Alt rs587776567(TT,T;TT,T)
Reference rs587776567(AT;AT)
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.31751278delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003507.3,