rs75053309, CFTR

N. diseases: 1
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
0.010 GeneticVariation BEFREE In our cohort, the Q359K/T360K mutation resulted in a severe CF phenotype, although with residual early CFTR function. 30033373 2018