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rs121917781

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917781(C;T)
Make rs121917781(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position67436794
GeneHSD11B2
is asnp
is mentioned by
dbSNPrs121917781
dbSNP (classic)rs121917781
ClinGenrs121917781
ebirs121917781
HLIrs121917781
Exacrs121917781
Gnomadrs121917781
Varsomers121917781
LitVarrs121917781
Maprs121917781
PheGenIrs121917781
Biobankrs121917781
1000 genomesrs121917781
hgdprs121917781
ensemblrs121917781
geneviewrs121917781
scholarrs121917781
googlers121917781
pharmgkbrs121917781
gwascentralrs121917781
openSNPrs121917781
23andMers121917781
SNPshotrs121917781
SNPdbers121917781
MSV3drs121917781
GWAS Ctlgrs121917781
Max Magnitude0
OMIM218030
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121917781(T;T)
Alt rs121917781(T;T)
Reference Rs121917781(C;C)
Significance Pathogenic
Disease Apparent mineralocorticoid excess
Variation info
Gene HSD11B2
CLNDBN Apparent mineralocorticoid excess
Reversed 0
HGVS NC_000016.9:g.67470697C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012876.3,