Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene. 7683628

1993
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. 8723693

1996
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.880 CausalMutation CLINVAR Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents. 7542778

1995
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.880 CausalMutation CLINVAR Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. 12767731

2003
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. 8406518

1993
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130

2014
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 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: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. 19914443

2009
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445

2009
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation BEFREE Cystic fibrosis (CF) patients with the A455E mutation, in both the French Canadian and the Dutch population, share a common haplotype over distances of up to 25 cM. 8707298

1996
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Variant cystic fibrosis phenotypes in the absence of CFTR mutations. 12167682

2002
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678

2010
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 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: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures. 20008117

2010
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.880 CausalMutation CLINVAR Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. 2236053

1990
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP. 1284529

1992
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation BEFREE A455E is a common mutation causing cystic fibrosis in the Netherlands. 7539891

1995
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation BEFREE Analysis of cystic fibrosis-associated missense mutations in the first nucleotide binding domain (NBD1), including A455E, S549R, Y563N, and P574H, revealed reduced levels of mature CFTR with elevated levels of carboxyl-terminal polypeptide fragments of 105 and 90 kDa. 10764788

2000
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant. 20150177

2010
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes. 16822950

2007
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. 8829633

1996
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT). 1710600

1991
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. 9452054

1998