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rs28934594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28934594(C;T)
Make rs28934594(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position67436620
GeneHSD11B2
is asnp
is mentioned by
dbSNPrs28934594
ebirs28934594
HLIrs28934594
Exacrs28934594
Varsomers28934594
Maprs28934594
PheGenIrs28934594
hapmaprs28934594
1000 genomesrs28934594
hgdprs28934594
ensemblrs28934594
gopubmedrs28934594
geneviewrs28934594
scholarrs28934594
googlers28934594
pharmgkbrs28934594
gwascentralrs28934594
openSNPrs28934594
23andMers28934594
23andMe allrs28934594
SNP Nexus

SNPshotrs28934594
SNPdbers28934594
MSV3drs28934594
GWAS Ctlgrs28934594
Max Magnitude0
OMIM218030
DescAPPARENT MINERALOCORTICOID EXCESS, HYPERTENSION DUE TO
Variant0006
Relatedalso
Neighborrs28934591
Distance505
Neighborrs28934593
Distance175


ClinVar
Risk rs28934594(T;T)
Alt rs28934594(T;T)
Reference rs28934594(C;C)
Significance Pathogenic
Disease Apparent mineralocorticoid excess
Variation info
Gene HSD11B2
CLNDBN Apparent mineralocorticoid excess
Reversed 0
HGVS NC_000016.9:g.67470523C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012879.3,