Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202179988
rs202179988
CFTR
0.020 GeneticVariation BEFREE [R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis. 20880762

2010
dbSNP: rs202179988
rs202179988
CFTR
0.020 GeneticVariation BEFREE Mutations of the arginine residue at codon 1070 have been associated with different disease consequences; R1070P and R1070Q with "severe" pancreatic insufficient cystic fibrosis (CF) and R1070W with "mild" pancreatic sufficient CF or congenital bilateral absence of the vas deferens. 18951463

2008