Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225214
rs863225214
PIBF1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		T 0.700 GeneticVariation CLINVAR An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768

2015