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rs72554627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs72554627(C;C)
Make rs72554627(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142912546
GeneCYP11B2
is asnp
is mentioned by
dbSNPrs72554627
ebirs72554627
HLIrs72554627
Exacrs72554627
Varsomers72554627
Maprs72554627
PheGenIrs72554627
hapmaprs72554627
1000 genomesrs72554627
hgdprs72554627
ensemblrs72554627
gopubmedrs72554627
geneviewrs72554627
scholarrs72554627
googlers72554627
pharmgkbrs72554627
gwascentralrs72554627
openSNPrs72554627
23andMers72554627
23andMe allrs72554627
SNP Nexus

SNPshotrs72554627
SNPdbers72554627
MSV3drs72554627
GWAS Ctlgrs72554627
Max Magnitude0
OMIM124080
Desc
Variant0005
Relatedalso


ClinVar
Risk rs72554627(C;C)
Alt rs72554627(C;C)
Reference rs72554627(T;T)
Significance Pathogenic
Disease Corticosterone methyloxidase type 1 deficiency
Variation info
Gene CYP11B2
CLNDBN Corticosterone methyloxidase type 1 deficiency
Reversed 1
HGVS NC_000008.10:g.143993962A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018375.27,