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rs121912813

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912813(G;G)
Make rs121912813(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position74347903
GeneCYP11A1
is asnp
is mentioned by
dbSNPrs121912813
ebirs121912813
HLIrs121912813
Exacrs121912813
Varsomers121912813
Maprs121912813
PheGenIrs121912813
hapmaprs121912813
1000 genomesrs121912813
hgdprs121912813
ensemblrs121912813
gopubmedrs121912813
geneviewrs121912813
scholarrs121912813
googlers121912813
pharmgkbrs121912813
gwascentralrs121912813
openSNPrs121912813
23andMers121912813
23andMe allrs121912813
SNP Nexus

SNPshotrs121912813
SNPdbers121912813
MSV3drs121912813
GWAS Ctlgrs121912813
Max Magnitude0
OMIM118485
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912813(G;G)
Alt rs121912813(G;G)
Reference rs121912813(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.74640244A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019074.28,