Gene: CFTR ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060503164
rs1060503164
CFTR
A 0.700 GeneticVariation CLINVAR The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing. 26708955

2016
dbSNP: rs113857788
rs113857788
CFTR
T 0.700 CausalMutation CLINVAR A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. 12952861

2003
dbSNP: rs113857788
rs113857788
CFTR
T 0.700 CausalMutation CLINVAR Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. 9239681

1996
dbSNP: rs113857788
rs113857788
CFTR
T 0.700 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study. 16678503

2006
dbSNP: rs113857788
rs113857788
CFTR
C 0.700 CausalMutation CLINVAR

dbSNP: rs113857788
rs113857788
CFTR
T 0.700 CausalMutation CLINVAR Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis. 16187186

2005
dbSNP: rs113857788
rs113857788
CFTR
T 0.700 CausalMutation CLINVAR Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis. 25492507

2015
dbSNP: rs113857788
rs113857788
CFTR
T 0.700 CausalMutation CLINVAR Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. 9272157

1997
dbSNP: rs113857788
rs113857788
CFTR
T 0.700 CausalMutation CLINVAR CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. 28603918

2017
dbSNP: rs113857788
rs113857788
CFTR
T 0.700 CausalMutation CLINVAR Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis. 15121783

2004
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 CausalMutation CLINVAR

dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR A haplotype framework for cystic fibrosis mutations in Iran. 16436643

2006
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578

2008
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients. 12439892

2002
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis. 23857699

2014
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR. 25024266

2014
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Newborn screening for cystic fibrosis in Alberta: Two years of experience. 22043142

2010
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations. 23276700

2013
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Since no other signs and symptoms of the CF disease were present, the finding of the rare mutation D110H on exon 4 of the CFTR-gene was paramount in the delineation of his underlying illness. 10719683

2000
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals. 12752573

2003
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study. 15371907

2005
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). 9521595

1998
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Disease-associated mutations in the extracytoplasmic loops of cystic fibrosis transmembrane conductance regulator do not impede biosynthetic processing but impair chloride channel stability. 11278813

2001