Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508462
rs397508462
CFTR
0.730 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: rs397508462
rs397508462
CFTR
0.730 GeneticVariation BEFREE Although the D979A mutant is very rare, this mutation combination seemed to be responsible for severe CF phenotypes. 9550362

1998
dbSNP: rs397508462
rs397508462
CFTR
0.730 GeneticVariation BEFREE CFTR gene analysis in cystic fibrosis patients: detection of 91% of molecular defects and identification of the novel mutation D979V. 9401110

1997