Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912811

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912811(C;T)
Make rs121912811(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position74345103
GeneCYP11A1
is asnp
is mentioned by
dbSNPrs121912811
ebirs121912811
HLIrs121912811
Exacrs121912811
Varsomers121912811
Maprs121912811
PheGenIrs121912811
hapmaprs121912811
1000 genomesrs121912811
hgdprs121912811
ensemblrs121912811
gopubmedrs121912811
geneviewrs121912811
scholarrs121912811
googlers121912811
pharmgkbrs121912811
gwascentralrs121912811
openSNPrs121912811
23andMers121912811
23andMe allrs121912811
SNP Nexus

SNPshotrs121912811
SNPdbers121912811
MSV3drs121912811
GWAS Ctlgrs121912811
Max Magnitude0
OMIM118485
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912811(T;T)
Alt rs121912811(T;T)
Reference rs121912811(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.74637444G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019070.24,