Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80034486
rs80034486
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758

2015

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130

2014

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014

dbSNP: rs80034486
rs80034486
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
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
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012

dbSNP: rs80034486
rs80034486
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883

2011

dbSNP: rs80034486
rs80034486
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant. 20150177

2010

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures. 20008117

2010

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539

2010

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678

2010

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. 19914443

2009

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445

2009

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes. 16822950

2007

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152

2005

dbSNP: rs80034486
rs80034486
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure. 15528182

2005

dbSNP: rs80034486
rs80034486
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates. 12529365

2003

dbSNP: rs80034486
rs80034486
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