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

2015
dbSNP: rs75527207
rs75527207
CFTR
A 0.900 CausalMutation CLINVAR Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population. 24440239

2014
dbSNP: rs78655421
rs78655421
CFTR
A 0.900 CausalMutation CLINVAR The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. 24440181

2014
dbSNP: rs80034486
rs80034486
CFTR
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: rs75527207
rs75527207
CFTR
A 0.900 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs75527207
rs75527207
CFTR
A 0.900 CausalMutation CLINVAR Ivacaftor in a G551D homozygote with cystic fibrosis. 24066763

2013
dbSNP: rs78655421
rs78655421
CFTR
A 0.900 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

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

2013
dbSNP: rs75527207
rs75527207
CFTR
A 0.900 CausalMutation CLINVAR Among these mutations, the CF-causing missense mutation G551D-CFTR (approx. 22768251

2012
dbSNP: rs75527207
rs75527207
CFTR
A 0.900 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. 22658665

2012
dbSNP: rs80034486
rs80034486
CFTR
G 0.900 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. 22658665

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

2011
dbSNP: rs75527207
rs75527207
CFTR
A 0.900 CausalMutation CLINVAR All azoospermic males should be screened for cystic fibrosis mutations before intracytoplasmic sperm injection. 20381036

2010
dbSNP: rs75527207
rs75527207
CFTR
A 0.900 CausalMutation CLINVAR We hypothesized that CF patients with the G551D mutation would have less severe disease than F508del homozygotes. 19734299

2009
dbSNP: rs78655421
rs78655421
CFTR
A 0.900 CausalMutation CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578

2008
dbSNP: rs78655421
rs78655421
CFTR
A 0.900 CausalMutation CLINVAR Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. 19092437

2008
dbSNP: rs78655421
rs78655421
CFTR
A 0.900 CausalMutation CLINVAR Since our screening protocol has enabled detection of R117H (ie, in 1995), 360466 newborns have been screened for cystic fibrosis in Brittany, of whom 124 had elevated immunoreactive trypsin and 2 mutations in the CFTR gene. 17015492

2006
dbSNP: rs78655421
rs78655421
CFTR
A 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
G 0.900 CausalMutation CLINVAR Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. 15371902

2005
dbSNP: rs78655421
rs78655421
CFTR
A 0.900 CausalMutation CLINVAR Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice. 15246977

2004
dbSNP: rs78655421
rs78655421
CFTR
A 0.900 CausalMutation CLINVAR Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. 12767731

2003
dbSNP: rs80034486
rs80034486
CFTR
G 0.900 CausalMutation CLINVAR Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. 12767731

2003
dbSNP: rs78655421
rs78655421
CFTR
A 0.900 CausalMutation CLINVAR Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. 11491164

2001
dbSNP: rs78655421
rs78655421
CFTR
A 0.900 CausalMutation CLINVAR 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. 11737931

2001