Source: CURATED

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: rs17089782
rs17089782
PIBF1
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		0.800 GeneticVariation UNIPROT

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

dbSNP: rs987735817
rs987735817
PIBF1
CUI: C4540389
Disease: JOUBERT SYNDROME 33
JOUBERT SYNDROME 33 		0.800 GeneticVariation UNIPROT

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

dbSNP: rs144610914
rs144610914
PIBF1
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		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: rs561619482
rs561619482
PIBF1
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs8002688
rs8002688
PIBF1
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. 24165912

2013
dbSNP: rs8002688
rs8002688
PIBF1
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. 24165912

2013
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: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		T 0.700 CausalMutation CLINVAR

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