Gene: PIBF1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17089782
rs17089782
PIBF1
A 0.700 GeneticVariation CLINVAR An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768

2015
dbSNP: rs863225214
rs863225214
PIBF1
T 0.700 GeneticVariation CLINVAR An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. 26167768

2015
dbSNP: rs144610914
rs144610914
PIBF1
0.010 GeneticVariation BEFREE Here we report on the identification of novel compound heterozygous variants (p.Y503C and p.Q485<sup>*</sup>) in the centrosomal gene <i>PIBF1</i> in a patient with JS via trio whole exome sequencing. 30858804

2019