Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852709
rs137852709
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: rs137852709
rs137852709
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: rs137852709
rs137852709
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137852709
rs137852709
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 		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
dbSNP: rs137852711
rs137852711
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: rs137852711
rs137852711
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: rs137852711
rs137852711
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137852711
rs137852711
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: rs137852712
rs137852712
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: rs137852712
rs137852712
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: rs137852712
rs137852712
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: rs137852712
rs137852712
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs35731153
rs35731153
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: rs35731153
rs35731153
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs35731153
rs35731153
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: rs35731153
rs35731153
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: rs61759921
rs61759921
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs72654338
rs72654338
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs777888930
rs777888930
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT
dbSNP: rs137852704
rs137852704
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C1845206
Disease:
Decreased circulating renin level 		T 0.700 CausalMutation CLINVAR Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome. 27900368 2016
dbSNP: rs3743966
rs3743966
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0085580
Disease:
Essential Hypertension 		0.010 GeneticVariation BEFREE AA + AT genotype of rs3743966 maybe a risk factor of EH. 24888492 2014