Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75053309
rs75053309
CFTR
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