Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80055610
rs80055610
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.820 GeneticVariation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs80055610
rs80055610
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		C 0.820 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs80055610
rs80055610
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.820 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs80055610
rs80055610
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.820 CausalMutation CLINVAR Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland. 12815607

2003
dbSNP: rs80055610
rs80055610
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.820 CausalMutation CLINVAR Distinct sputum cytokine profiles in cystic fibrosis and other chronic inflammatory airway disease. 10515411

1999
dbSNP: rs80055610
rs80055610
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.820 CausalMutation CLINVAR Detection of over 98% cystic fibrosis mutations in a Celtic population. 1284639

1992