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rs397514442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs397514442(-;-)
Make rs397514442(-;CT)
ReferenceGRCh38 38.1/141
Chromosome16
Position30988112
GeneHSD3B7
is asnp
is mentioned by
dbSNPrs397514442
ebirs397514442
HLIrs397514442
Exacrs397514442
Varsomers397514442
Maprs397514442
PheGenIrs397514442
hapmaprs397514442
1000 genomesrs397514442
hgdprs397514442
ensemblrs397514442
gopubmedrs397514442
geneviewrs397514442
scholarrs397514442
googlers397514442
pharmgkbrs397514442
gwascentralrs397514442
openSNPrs397514442
23andMers397514442
23andMe allrs397514442
SNP Nexus

SNPshotrs397514442
SNPdbers397514442
MSV3drs397514442
GWAS Ctlgrs397514442
Max Magnitude0
ClinVar
Risk rs397514442(;)
Alt rs397514442(;)
Reference rs397514442(CT;CT)
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.30999433_30999434delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003015.3,