rs121908759, CFTR

N. diseases: 5
Disease: Cystic Fibrosis ×
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
0.710 GeneticVariation CLINVAR On the basis of the clinical features presented by the eleven patients, we postulate that the p.Gly622Asp might be associated with a wide spectrum of phenotypes including classical cystic fibrosis. 25443471 2015
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.710 GeneticVariation BEFREE We report molecular and clinical analyses in eleven unrelated patients with CF or CFTR-RD with compound heterozygosity for the p.Gly622Asp mutation. 25443471 2015
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.710 GeneticVariation CLINVAR C terminus of nucleotide binding domain 1 contains critical features for cystic fibrosis transmembrane conductance regulator trafficking and activation. 20435887 2010
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.710 GeneticVariation CLINVAR To study the mechanism of action of several pharmacological chaperones benzo[c]quinolizinium (MPB), we analyzed their effects on two CF mutations; F508del-CFTR and G622D-CFTR. 18230692 2008
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.710 CausalMutation CLINVAR