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rs121917782

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917782(C;T)
Make rs121917782(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position67436264
GeneHSD11B2
is asnp
is mentioned by
dbSNPrs121917782
dbSNP (classic)rs121917782
ClinGenrs121917782
ebirs121917782
HLIrs121917782
Exacrs121917782
Gnomadrs121917782
Varsomers121917782
LitVarrs121917782
Maprs121917782
PheGenIrs121917782
Biobankrs121917782
1000 genomesrs121917782
hgdprs121917782
ensemblrs121917782
geneviewrs121917782
scholarrs121917782
googlers121917782
pharmgkbrs121917782
gwascentralrs121917782
openSNPrs121917782
23andMers121917782
SNPshotrs121917782
SNPdbers121917782
MSV3drs121917782
GWAS Ctlgrs121917782
Max Magnitude0
OMIM218030
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121917782(T;T)
Alt rs121917782(T;T)
Reference Rs121917782(C;C)
Significance Pathogenic
Disease Apparent mineralocorticoid excess
Variation info
Gene HSD11B2
CLNDBN Apparent mineralocorticoid excess, mild
Reversed 0
HGVS NC_000016.9:g.67470167C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012881.5,