Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893611
rs104893611
CFC1
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL 		0.800 GeneticVariation UNIPROT CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. 11799476

2002
dbSNP: rs104893611
rs104893611
CFC1
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 11062482

2000