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rs121912978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912978(C;T)
Make rs121912978(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142915087
GeneCYP11B2
is asnp
is mentioned by
dbSNPrs121912978
ebirs121912978
HLIrs121912978
Exacrs121912978
Varsomers121912978
Maprs121912978
PheGenIrs121912978
hapmaprs121912978
1000 genomesrs121912978
hgdprs121912978
ensemblrs121912978
gopubmedrs121912978
geneviewrs121912978
scholarrs121912978
googlers121912978
pharmgkbrs121912978
gwascentralrs121912978
openSNPrs121912978
23andMers121912978
23andMe allrs121912978
SNP Nexus

SNPshotrs121912978
SNPdbers121912978
MSV3drs121912978
GWAS Ctlgrs121912978
GMAF0.0
Max Magnitude0
OMIM124080
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912978(T;T)
Alt rs121912978(T;T)
Reference rs121912978(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.143996503G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018377.27,