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rs121912814

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912814(A;A)
Make rs121912814(A;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position74338761
GeneCYP11A1
is asnp
is mentioned by
dbSNPrs121912814
ebirs121912814
HLIrs121912814
Exacrs121912814
Varsomers121912814
Maprs121912814
PheGenIrs121912814
hapmaprs121912814
1000 genomesrs121912814
hgdprs121912814
ensemblrs121912814
gopubmedrs121912814
geneviewrs121912814
scholarrs121912814
googlers121912814
pharmgkbrs121912814
gwascentralrs121912814
openSNPrs121912814
23andMers121912814
23andMe allrs121912814
SNP Nexus

SNPshotrs121912814
SNPdbers121912814
MSV3drs121912814
GWAS Ctlgrs121912814
Max Magnitude0
OMIM118485
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912814(A;A)
Alt rs121912814(A;A)
Reference rs121912814(T;T)
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.74631102A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019075.28,