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rs786200876

From SNPedia

Orientationplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs786200876(-;-)
Make rs786200876(-;AG)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position30985703
GeneHSD3B7
is asnp
is mentioned by
dbSNPrs786200876
ebirs786200876
HLIrs786200876
Exacrs786200876
Varsomers786200876
Maprs786200876
PheGenIrs786200876
hapmaprs786200876
1000 genomesrs786200876
hgdprs786200876
ensemblrs786200876
gopubmedrs786200876
geneviewrs786200876
scholarrs786200876
googlers786200876
pharmgkbrs786200876
gwascentralrs786200876
openSNPrs786200876
23andMers786200876
23andMe allrs786200876
SNP Nexus

SNPshotrs786200876
SNPdbers786200876
MSV3drs786200876
GWAS Ctlgrs786200876
Max Magnitude0
ClinVar
Risk rs786200876(;)
Alt rs786200876(;)
Reference rs786200876(AG;AG)
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.30997024_30997025delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003019.2,