Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 CausalMutation CLINVAR The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland. 9043501

1997
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 CausalMutation CLINVAR Screening Young syndrome patients for CFTR mutations. 7551394

1995
dbSNP: rs368505753
rs368505753
CFTR
0.820 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: rs368505753
rs368505753
CFTR
0.820 GeneticVariation UNIPROT Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. 9554753

1998
dbSNP: rs368505753
rs368505753
CFTR
0.820 GeneticVariation UNIPROT Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes. 8956039

1996
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. 22658665

2012
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 CausalMutation CLINVAR Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening. 12007216

2002
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 GeneticVariation CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578

2008
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 CausalMutation CLINVAR Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. 16840743

2006
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 GeneticVariation CLINVAR Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France. 7691344

1993
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 CausalMutation CLINVAR P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population. 9507391

1998
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 GeneticVariation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs368505753
rs368505753
CFTR
0.820 GeneticVariation UNIPROT Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. 8829633

1996
dbSNP: rs368505753
rs368505753
CFTR
0.820 GeneticVariation UNIPROT Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures. 20008117

2010
dbSNP: rs368505753
rs368505753
CFTR
0.820 GeneticVariation UNIPROT Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. 8522333

1995
dbSNP: rs368505753
rs368505753
CFTR
0.820 GeneticVariation UNIPROT Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP. 1284529

1992
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 CausalMutation CLINVAR Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis. 17495464

2007
dbSNP: rs368505753
rs368505753
CFTR
0.820 GeneticVariation UNIPROT A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. 7543567

1995
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 CausalMutation CLINVAR Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. 16189704

2005
dbSNP: rs368505753
rs368505753
CFTR
0.820 GeneticVariation UNIPROT Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. 9452054

1998
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 GeneticVariation CLINVAR Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. 22658665

2012
dbSNP: rs368505753
rs368505753
CFTR
0.820 GeneticVariation UNIPROT Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes. 16822950

2007
dbSNP: rs368505753
rs368505753
CFTR
0.820 GeneticVariation BEFREE Improved clinical and radiographic outcomes after treatment with ivacaftor in a young adult with cystic fibrosis with the P67L CFTR mutation. 25732475

2015
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs368505753
rs368505753
CFTR
T 0.820 GeneticVariation CLINVAR Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening. 12007216

2002