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rs72547508

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in complete genomics
Make rs72547508(C;T)
Make rs72547508(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position74339687
GeneCYP11A1
is asnp
is mentioned by
dbSNPrs72547508
ebirs72547508
HLIrs72547508
Exacrs72547508
Varsomers72547508
Maprs72547508
PheGenIrs72547508
hapmaprs72547508
1000 genomesrs72547508
hgdprs72547508
ensemblrs72547508
gopubmedrs72547508
geneviewrs72547508
scholarrs72547508
googlers72547508
pharmgkbrs72547508
gwascentralrs72547508
openSNPrs72547508
23andMers72547508
23andMe allrs72547508
SNP Nexus

SNPshotrs72547508
SNPdbers72547508
MSV3drs72547508
GWAS Ctlgrs72547508
Max Magnitude0
OMIM118485
Desc
Variant0002
Relatedalso


ClinVar
Risk rs72547508(T;T)
Alt rs72547508(T;T)
Reference rs72547508(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.74632028G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019069.27,