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rs121912977

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912977(G;T)
Make rs121912977(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position142914741
GeneCYP11B2
is asnp
is mentioned by
dbSNPrs121912977
dbSNP (classic)rs121912977
ClinGenrs121912977
ebirs121912977
HLIrs121912977
Exacrs121912977
Gnomadrs121912977
Varsomers121912977
LitVarrs121912977
Maprs121912977
PheGenIrs121912977
Biobankrs121912977
1000 genomesrs121912977
hgdprs121912977
ensemblrs121912977
geneviewrs121912977
scholarrs121912977
googlers121912977
pharmgkbrs121912977
gwascentralrs121912977
openSNPrs121912977
23andMers121912977
SNPshotrs121912977
SNPdbers121912977
MSV3drs121912977
GWAS Ctlgrs121912977
Max Magnitude0
OMIM124080
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912977(T;T)
Alt rs121912977(T;T)
Reference Rs121912977(G;G)
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.143996157C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018376.28,