CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Liver diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75961395
rs75961395
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0023895
Disease:
Liver diseases 		0.010 GeneticVariation BEFREE Liver disease was found in 56 (32%) of 173 patients carrying mutations associated with a severe phenotype and in 6 (38%) of 16 patients carrying at least one mutation associated with a variable genotype (G85E and/or 5T allele). 9917439 1999