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rs28934591

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs28934591(C;T)
Make rs28934591(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position67436115
GeneHSD11B2
is asnp
is mentioned by
dbSNPrs28934591
dbSNP (classic)rs28934591
ClinGenrs28934591
ebirs28934591
HLIrs28934591
Exacrs28934591
Gnomadrs28934591
Varsomers28934591
LitVarrs28934591
Maprs28934591
PheGenIrs28934591
Biobankrs28934591
1000 genomesrs28934591
hgdprs28934591
ensemblrs28934591
geneviewrs28934591
scholarrs28934591
googlers28934591
pharmgkbrs28934591
gwascentralrs28934591
openSNPrs28934591
23andMers28934591
SNPshotrs28934591
SNPdbers28934591
MSV3drs28934591
GWAS Ctlgrs28934591
Max Magnitude0
OMIM218030
DescAPPARENT MINERALOCORTICOID EXCESS, HYPERTENSION DUE TO
Variant0002
Relatedalso



ClinVar
Risk rs28934591(T;T)
Alt rs28934591(T;T)
Reference Rs28934591(C;C)
Significance Pathogenic
Disease Apparent mineralocorticoid excess
Variation info
Gene HSD11B2
CLNDBN Apparent mineralocorticoid excess
Reversed 0
HGVS NC_000016.9:g.67470018C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012875.4,