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rs121912812

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912812(C;T)
Make rs121912812(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position74339668
GeneCYP11A1
is asnp
is mentioned by
dbSNPrs121912812
ebirs121912812
HLIrs121912812
Exacrs121912812
Varsomers121912812
Maprs121912812
PheGenIrs121912812
hapmaprs121912812
1000 genomesrs121912812
hgdprs121912812
ensemblrs121912812
gopubmedrs121912812
geneviewrs121912812
scholarrs121912812
googlers121912812
pharmgkbrs121912812
gwascentralrs121912812
openSNPrs121912812
23andMers121912812
23andMe allrs121912812
SNP Nexus

SNPshotrs121912812
SNPdbers121912812
MSV3drs121912812
GWAS Ctlgrs121912812
Max Magnitude0
OMIM118485
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912812(T;T)
Alt rs121912812(T;T)
Reference rs121912812(C;C)
Significance Pathogenic
Disease Adrenal insufficiency
Variation info
Gene CYP11A1
CLNDBN Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
Reversed 1
HGVS NC_000015.9:g.74632009G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019072.23,