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rs28934592

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs28934592(A;A)
Make rs28934592(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position67436101
GeneHSD11B2
is asnp
is mentioned by
dbSNPrs28934592
dbSNP (classic)rs28934592
ClinGenrs28934592
ebirs28934592
HLIrs28934592
Exacrs28934592
Gnomadrs28934592
Varsomers28934592
LitVarrs28934592
Maprs28934592
PheGenIrs28934592
Biobankrs28934592
1000 genomesrs28934592
hgdprs28934592
ensemblrs28934592
geneviewrs28934592
scholarrs28934592
googlers28934592
pharmgkbrs28934592
gwascentralrs28934592
openSNPrs28934592
23andMers28934592
SNPshotrs28934592
SNPdbers28934592
MSV3drs28934592
GWAS Ctlgrs28934592
Max Magnitude0
OMIM218030
DescAPPARENT MINERALOCORTICOID EXCESS, HYPERTENSION DUE TO
Variant0004
Relatedalso


ClinVar
Risk rs28934592(A;A)
Alt rs28934592(A;A)
Reference Rs28934592(G;G)
Significance Pathogenic
Disease Apparent mineralocorticoid excess
Variation info
Gene HSD11B2
CLNDBN Apparent mineralocorticoid excess
Reversed 0
HGVS NC_000016.9:g.67470004G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012877.4,