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: rs137852710
rs137852710
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		0.800 GeneticVariation UNIPROT Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. 19017867 2009
dbSNP: rs137852710
rs137852710
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		0.800 GeneticVariation UNIPROT Could a defective epithelial sodium channel lead to bronchiectasis. 18507830 2008
dbSNP: rs137852710
rs137852710
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		0.800 GeneticVariation UNIPROT Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. 16207733 2005
dbSNP: rs137852710
rs137852710
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		A 0.800 CausalMutation CLINVAR