Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Rescue of NBD2 mutants N1303K and S1235R of CFTR by small-molecule correctors and transcomplementation. 25799511

2015
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients. 23951356

2013
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. 22658665

2012
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. 21520337

2011
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. 15371902

2005
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. 12767731

2003
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes. 1380943

1992
dbSNP: rs80034486
rs80034486
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.900 CausalMutation CLINVAR A mutation in the second nucleotide binding fold of the cystic fibrosis gene. 1998343

1991