CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77010898
rs77010898
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Out of 800 subjects, 18% [asthma - 24% (n=250), CP - 29.33% (n=150) cases and controls - 9.3% (n=400)] were positive for heterozygous mutation, 0.8% of the (n=250) asthmatic cases (n=250) were homozygous for IVS8 T5 polymorphism while no subjects were found positive for W1282X mutation. 24440239 2014
dbSNP: rs113993959
rs113993959
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4546077
Disease:
Atypical cystic fibrosis
0.010 GeneticVariation BEFREE A family with atypical cystic fibrosis: brother and sister with heterozygosity for both G542X and R117H. 18078365 2008
dbSNP: rs201124247
rs201124247
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4546077
Disease:
Atypical cystic fibrosis
0.010 GeneticVariation BEFREE Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype. 16478680 2006
dbSNP: rs397508638
rs397508638
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4546077
Disease:
Atypical cystic fibrosis
0.010 GeneticVariation BEFREE N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis. 17127107 2007
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4546077
Disease:
Atypical cystic fibrosis
0.010 GeneticVariation BEFREE A family with atypical cystic fibrosis: brother and sister with heterozygosity for both G542X and R117H. 18078365 2008
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4546077
Disease:
Atypical cystic fibrosis
0.010 GeneticVariation BEFREE N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis. 17127107 2007
dbSNP: rs3779547
rs3779547
Entrez Id: 1080;7472;105375467
Gene Symbol: CFTR;WNT2;LOC105375467
CFTR;WNT2;LOC105375467
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE In the case-control study, three SNPs (rs3779547, rs4727847 and rs3729629), two major individual haplotypes (A-T-C and G-G-G, consisting of rs3779547, rs4727847, and rs3729629), and global probability values of the haplotype distributions in the same region (global p=0.0091) showed significant associations with autism. 19895723 2010
dbSNP: rs4727847
rs4727847
Entrez Id: 1080;7472;105375467
Gene Symbol: CFTR;WNT2;LOC105375467
CFTR;WNT2;LOC105375467
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE In the case-control study, three SNPs (rs3779547, rs4727847 and rs3729629), two major individual haplotypes (A-T-C and G-G-G, consisting of rs3779547, rs4727847, and rs3729629), and global probability values of the haplotype distributions in the same region (global p=0.0091) showed significant associations with autism. 19895723 2010
dbSNP: rs17451754
rs17451754
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0004763
Disease:
Barrett Esophagus
G 0.700 GeneticVariation GWASCAT We identified eight new risk loci associated with either Barrett's oesophagus or oesophageal adenocarcinoma, within or near the genes CFTR (rs17451754; p=4·8 × 10<sup>-10</sup>), MSRA (rs17749155; p=5·2 × 10<sup>-10</sup>), LINC00208 and BLK (rs10108511; p=2·1 × 10<sup>-9</sup>), KHDRBS2 (rs62423175; p=3·0 × 10<sup>-9</sup>), TPPP and CEP72 (rs9918259; p=3·2 × 10<sup>-9</sup>), TMOD1 (rs7852462; p=1·5 × 10<sup>-8</sup>), SATB2 (rs139606545; p=2·0 × 10<sup>-8</sup>), and HTR3C and ABCC5 (rs9823696; p=1·6 × 10<sup>-8</sup>). 27527254 2016
dbSNP: rs113993959
rs113993959
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0023892
Disease:
Biliary cirrhosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs121909044
rs121909044
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0152244
Disease:
Bone Cysts, Aneurysmal
0.010 GeneticVariation BEFREE The molecular pathology of mutant F508del CFTR is partially corrected in vitro by the secondary amino acid substitution R553Q in the ABC signature motif. 19176844 2009
dbSNP: rs75527207
rs75527207
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0242699
Disease:
Bone Demineralization, Pathologic
0.010 GeneticVariation BEFREE Bone demineralization is improved by ivacaftor in patients with cystic fibrosis carrying the p.Gly551Asp mutation. 27745802 2016
dbSNP: rs113993959
rs113993959
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0006267
Disease:
Bronchiectasis
T 0.700 CausalMutation CLINVAR
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0006267
Disease:
Bronchiectasis
T 0.700 CausalMutation CLINVAR
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0006267
Disease:
Bronchiectasis
0.010 GeneticVariation BEFREE For those with chest HRCT results available, 75% p.Arg117His-5TCF, 33% p.Arg117His-7TCF and 27% p.Arg117His-7TCFTR patients had bronchiectasis. 30279124 2019
dbSNP: rs113993959
rs113993959
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908752
rs121908752
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs121908753
rs121908753
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121908759
rs121908759
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121908761
rs121908761
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121908792
rs121908792
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs121908799
rs121908799
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs121908802
rs121908802
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs121909005
rs121909005
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs121909011
rs121909011
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
T 0.700 CausalMutation CLINVAR