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: rs121909017
rs121909017
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs193922500
rs193922500
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs267606723
rs267606723
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397508266
rs397508266
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397508464
rs397508464
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs397508759
rs397508759
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397508778
rs397508778
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs75039782
rs75039782
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs75096551
rs75096551
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs75527207
rs75527207
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs77010898
rs77010898
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs77284892
rs77284892
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs77834169
rs77834169
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs78756941
rs78756941
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs78802634
rs78802634
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs79850223
rs79850223
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs80224560
rs80224560
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs113993960
rs113993960
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C4017631
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1805177
rs1805177
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C4017631
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF 		G 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs10487372
rs10487372
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE Individuals with 'deletion-T' (DeltaF508/rs10487372) haplotype had a 68% reduced risk for lung cancer compared to common haplotype 'no-deletion-C' (OR=0.32; 95% CI=0.15-0.68; p=0.01). 20116881 2010
dbSNP: rs213950
rs213950
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE DeltaF508 deletion and genotypes with minor alleles in one tag SNP, rs10487372, and one functional SNP, rs213950, were inversely associated with lung cancer risk. 20116881 2010