Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909043
rs121909043
CFTR
G 0.700 CausalMutation CLINVAR Inconclusive diagnosis of cystic fibrosis after newborn screening. 25963003

2015
dbSNP: rs121909043
rs121909043
CFTR
G 0.700 CausalMutation CLINVAR A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis. 25910067

2015
dbSNP: rs121909043
rs121909043
CFTR
G 0.700 CausalMutation CLINVAR S1455X CFTR mutation and upper airway colonization with Pseudomonas aeruginosa. 24388274

2014
dbSNP: rs121909043
rs121909043
CFTR
G 0.700 CausalMutation CLINVAR Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study. 25304080

2014
dbSNP: rs121909043
rs121909043
CFTR
G 0.700 CausalMutation 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: rs121909043
rs121909043
CFTR
G 0.700 CausalMutation CLINVAR Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. 17662673

2008
dbSNP: rs121909043
rs121909043
CFTR
G 0.700 CausalMutation CLINVAR Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns. 16801189

2006
dbSNP: rs121909043
rs121909043
CFTR
G 0.700 CausalMutation CLINVAR The role of the C terminus and Na+/H+ exchanger regulatory factor in the functional expression of cystic fibrosis transmembrane conductance regulator in nonpolarized cells and epithelia. 12651858

2003
dbSNP: rs121909043
rs121909043
CFTR
A 0.700 GeneticVariation CLINVAR A PDZ-binding motif is essential but not sufficient to localize the C terminus of CFTR to the apical membrane. 11171377

2001
dbSNP: rs121909043
rs121909043
CFTR
A 0.700 GeneticVariation CLINVAR The PDZ-interacting domain of cystic fibrosis transmembrane conductance regulator is required for functional expression in the apical plasma membrane. 10852925

2000
dbSNP: rs121909043
rs121909043
CFTR
G 0.700 CausalMutation CLINVAR A PDZ-interacting domain in CFTR is an apical membrane polarization signal. 10562297

1999
dbSNP: rs121909043
rs121909043
CFTR
G 0.700 CausalMutation CLINVAR A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis. 9499426

1998
dbSNP: rs121909043
rs121909043
CFTR
G 0.700 GeneticVariation CLINVAR