CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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