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rs387906601

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906601(C;C)
Make rs387906601(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position74343953
GeneCYP11A1
is asnp
is mentioned by
dbSNPrs387906601
ebirs387906601
HLIrs387906601
Exacrs387906601
Varsomers387906601
Maprs387906601
PheGenIrs387906601
hapmaprs387906601
1000 genomesrs387906601
hgdprs387906601
ensemblrs387906601
gopubmedrs387906601
geneviewrs387906601
scholarrs387906601
googlers387906601
pharmgkbrs387906601
gwascentralrs387906601
openSNPrs387906601
23andMers387906601
23andMe allrs387906601
SNP Nexus

SNPshotrs387906601
SNPdbers387906601
MSV3drs387906601
GWAS Ctlgrs387906601
Max Magnitude0
ClinVar
Risk rs387906601(C;C)
Alt rs387906601(C;C)
Reference rs387906601(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.74636294A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022465.27,