Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77932196
rs77932196
0.840 GeneticVariation BEFREE This patient is also a compound heterozygote for the cystic fibrosis (CF) mutations, DeltaF508 and R347P. 12400067

2002

dbSNP: rs77932196
rs77932196
0.840 GeneticVariation BEFREE We investigated the structure-function relationships of a severe cystic fibrosis (CF)-associated double mutant (R347H-D979A) to evaluate the contribution of each mild mutation to the phenotype. 11118444

2001

dbSNP: rs77932196
rs77932196
0.840 GeneticVariation BEFREE One patient carried two CF mutations (deltaF508/R347H), and five were found to carry one CF mutation (four deltaF508; one R117H). 8659542

1996

dbSNP: rs77932196
rs77932196
0.840 GeneticVariation BEFREE Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis. 7680769

1993