Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17089782
rs17089782
PIBF1
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		A 0.800 CausalMutation CLINVAR

dbSNP: rs987735817
rs987735817
PIBF1
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		C 0.800 CausalMutation CLINVAR

dbSNP: rs144610914
rs144610914
PIBF1
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs144610914
rs144610914
PIBF1
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		G 0.700 CausalMutation CLINVAR

dbSNP: rs17089782
rs17089782
PIBF1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		A 0.700 GeneticVariation CLINVAR An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768

2015
dbSNP: rs539010725
rs539010725
PIBF1
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		T 0.700 CausalMutation CLINVAR

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
dbSNP: rs911707459
rs911707459
PIBF1
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		T 0.700 CausalMutation CLINVAR

dbSNP: rs911707459
rs911707459
PIBF1
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		T 0.700 CausalMutation CLINVAR