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rs397514443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397514443(-;-)
Make rs397514443(-;C)
Make rs397514443(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position30986176
GeneHSD3B7
is asnp
is mentioned by
dbSNPrs397514443
ebirs397514443
HLIrs397514443
Exacrs397514443
Varsomers397514443
Maprs397514443
PheGenIrs397514443
hapmaprs397514443
1000 genomesrs397514443
hgdprs397514443
ensemblrs397514443
gopubmedrs397514443
geneviewrs397514443
scholarrs397514443
googlers397514443
pharmgkbrs397514443
gwascentralrs397514443
openSNPrs397514443
23andMers397514443
23andMe allrs397514443
SNP Nexus

SNPshotrs397514443
SNPdbers397514443
MSV3drs397514443
GWAS Ctlgrs397514443
Max Magnitude0
ClinVar
Risk rs397514443(C;C)
Alt rs397514443(C;C)
Reference rs397514443(;)
Significance Pathogenic
Disease Bile acid synthesis defect
Variation info
Gene HSD3B7
CLNDBN Bile acid synthesis defect, congenital, 1
Reversed 0
HGVS NC_000016.9:g.30997497dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000003016.2,