Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78655421
rs78655421
0.900 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758

2015

dbSNP: rs80034486
rs80034486
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
0.900 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758

2015

dbSNP: rs75527207
rs75527207
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
0.900 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130

2014

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014

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

2014

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

2014

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

2013

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

2013

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

2013

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

2013

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

2012

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

2012

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012

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

2012

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

2012

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883

2011

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

2011

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

2010

dbSNP: rs75527207
rs75527207
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