Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143149764
rs143149764
B9D1
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		G 0.700 CausalMutation CLINVAR B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. 21493627

2011