rs397508266, CFTR

N. diseases: 4
Disease: Cystic Fibrosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.700 CausalMutation CLINVAR Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy. 25122143 2015
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.700 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870 2013
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.700 CausalMutation CLINVAR A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. 7534040 1995