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rs121912979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912979(C;T)
Make rs121912979(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142914404
GeneCYP11B2
is asnp
is mentioned by
dbSNPrs121912979
ebirs121912979
HLIrs121912979
Exacrs121912979
Varsomers121912979
Maprs121912979
PheGenIrs121912979
hapmaprs121912979
1000 genomesrs121912979
hgdprs121912979
ensemblrs121912979
gopubmedrs121912979
geneviewrs121912979
scholarrs121912979
googlers121912979
pharmgkbrs121912979
gwascentralrs121912979
openSNPrs121912979
23andMers121912979
23andMe allrs121912979
SNP Nexus

SNPshotrs121912979
SNPdbers121912979
MSV3drs121912979
GWAS Ctlgrs121912979
Max Magnitude0
OMIM124080
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121912979(T;T)
Alt rs121912979(T;T)
Reference rs121912979(C;C)
Significance Pathogenic
Disease Corticosterone methyloxidase type 2 deficiency
Variation info
Gene CYP11B2
CLNDBN Corticosterone methyloxidase type 2 deficiency
Reversed 1
HGVS NC_000008.10:g.143995820G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018382.27,