rs143149764, B9D1

N. diseases: 3
Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
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