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rs886043511

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome16
Position30987963
GeneHSD3B7
is asnp
is mentioned by
dbSNPrs886043511
dbSNP (classic)rs886043511
ClinGenrs886043511
ebirs886043511
HLIrs886043511
Exacrs886043511
Gnomadrs886043511
Varsomers886043511
LitVarrs886043511
Maprs886043511
PheGenIrs886043511
Biobankrs886043511
1000 genomesrs886043511
hgdprs886043511
ensemblrs886043511
geneviewrs886043511
scholarrs886043511
googlers886043511
pharmgkbrs886043511
gwascentralrs886043511
openSNPrs886043511
23andMers886043511
SNPshotrs886043511
SNPdbers886043511
MSV3drs886043511
GWAS Ctlgrs886043511
Max Magnitude0
ClinVar
Risk rs886043511(-;-)
Alt rs886043511(-;-)
Reference Rs886043511(T;T)
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.30999284delT
CLNSRC
CLNACC RCV000307810.1,