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rs387907168

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907168(C;T)
Make rs387907168(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209707020
GeneHSD11B1, LOC101930114
is asnp
is mentioned by
dbSNPrs387907168
dbSNP (classic)rs387907168
ClinGenrs387907168
ebirs387907168
HLIrs387907168
Exacrs387907168
Gnomadrs387907168
Varsomers387907168
LitVarrs387907168
Maprs387907168
PheGenIrs387907168
Biobankrs387907168
1000 genomesrs387907168
hgdprs387907168
ensemblrs387907168
geneviewrs387907168
scholarrs387907168
googlers387907168
pharmgkbrs387907168
gwascentralrs387907168
openSNPrs387907168
23andMers387907168
SNPshotrs387907168
SNPdbers387907168
MSV3drs387907168
GWAS Ctlgrs387907168
Max Magnitude0
ClinVar
Risk rs387907168(T;T)
Alt rs387907168(T;T)
Reference Rs387907168(C;C)
Significance Pathogenic
Disease Cortisone reductase deficiency 2
Variation info
Gene LOC101930114 HSD11B1
CLNDBN Cortisone reductase deficiency 2
Reversed 0
HGVS NC_000001.10:g.209880365C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024294.2,