PIFO, primary cilia formation, 128344

N. diseases: 20; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150508940
rs150508940
Entrez Id: 128344
Gene Symbol: PIFO
PIFO
CUI: C0037221
Disease:
Situs Inversus 		0.010 GeneticVariation BEFREE This phenotype is likely relevant in humans, because we identified a heterozygous R80K PIFO mutation in a fetus with situs inversus and cystic liver and kidneys, and in patient with double-outflow right ventricle. 20643351 2010
dbSNP: rs773920636
rs773920636
Entrez Id: 128344
Gene Symbol: PIFO
PIFO
CUI: C0037221
Disease:
Situs Inversus 		0.010 GeneticVariation BEFREE This phenotype is likely relevant in humans, because we identified a heterozygous R80K PIFO mutation in a fetus with situs inversus and cystic liver and kidneys, and in patient with double-outflow right ventricle. 20643351 2010