Have questions? Visit https://www.reddit.com/r/SNPedia

rs121917780

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917780(C;T)
Make rs121917780(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position67436100
GeneHSD11B2
is asnp
is mentioned by
dbSNPrs121917780
dbSNP (classic)rs121917780
ClinGenrs121917780
ebirs121917780
HLIrs121917780
Exacrs121917780
Gnomadrs121917780
Varsomers121917780
LitVarrs121917780
Maprs121917780
PheGenIrs121917780
Biobankrs121917780
1000 genomesrs121917780
hgdprs121917780
ensemblrs121917780
geneviewrs121917780
scholarrs121917780
googlers121917780
pharmgkbrs121917780
gwascentralrs121917780
openSNPrs121917780
23andMers121917780
SNPshotrs121917780
SNPdbers121917780
MSV3drs121917780
GWAS Ctlgrs121917780
Max Magnitude0
OMIM218030
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121917780(T;T)
Alt rs121917780(T;T)
Reference Rs121917780(C;C)
Significance Pathogenic
Disease Apparent mineralocorticoid excess
Variation info
Gene HSD11B2
CLNDBN Apparent mineralocorticoid excess
Reversed 0
HGVS NC_000016.9:g.67470003C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012874.3,