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rs387907117

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907117(C;C)
Make rs387907117(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position67436797
GeneHSD11B2
is asnp
is mentioned by
dbSNPrs387907117
dbSNP (classic)rs387907117
ClinGenrs387907117
ebirs387907117
HLIrs387907117
Exacrs387907117
Gnomadrs387907117
Varsomers387907117
LitVarrs387907117
Maprs387907117
PheGenIrs387907117
Biobankrs387907117
1000 genomesrs387907117
hgdprs387907117
ensemblrs387907117
geneviewrs387907117
scholarrs387907117
googlers387907117
pharmgkbrs387907117
gwascentralrs387907117
openSNPrs387907117
23andMers387907117
SNPshotrs387907117
SNPdbers387907117
MSV3drs387907117
GWAS Ctlgrs387907117
Max Magnitude0
ClinVar
Risk rs387907117(C;C)
Alt rs387907117(C;C)
Reference Rs387907117(T;T)
Significance Pathogenic
Disease Apparent mineralocorticoid excess
Variation info
Gene HSD11B2
CLNDBN Apparent mineralocorticoid excess
Reversed 0
HGVS NC_000016.9:g.67470700T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024127.5,