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rs387906288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906288(G;T)
Make rs387906288(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position30986205
GeneHSD3B7
is asnp
is mentioned by
dbSNPrs387906288
ebirs387906288
HLIrs387906288
Exacrs387906288
Varsomers387906288
Maprs387906288
PheGenIrs387906288
hapmaprs387906288
1000 genomesrs387906288
hgdprs387906288
ensemblrs387906288
gopubmedrs387906288
geneviewrs387906288
scholarrs387906288
googlers387906288
pharmgkbrs387906288
gwascentralrs387906288
openSNPrs387906288
23andMers387906288
23andMe allrs387906288
SNP Nexus

SNPshotrs387906288
SNPdbers387906288
MSV3drs387906288
GWAS Ctlgrs387906288
Max Magnitude0
ClinVar
Risk rs387906288(T;T)
Alt rs387906288(T;T)
Reference rs387906288(G;G)
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.30997526G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003017.2,