Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906402
rs387906402
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		G 0.820 CausalMutation CLINVAR
dbSNP: rs387906402
rs387906402
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		T 0.820 CausalMutation CLINVAR
dbSNP: rs137852707
rs137852707
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs137852708
rs137852708
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		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 		T 0.800 CausalMutation CLINVAR
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 		A 0.800 CausalMutation CLINVAR
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 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1182475940
rs1182475940
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C1449843
Disease:
Pseudohypoaldosteronism, Type I, Autosomal Recessive 		A 0.700 GeneticVariation CLINVAR
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: rs387906402
rs387906402
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.820 GeneticVariation BEFREE Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit. 18398334 2008
dbSNP: rs137852705
rs137852705
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.710 GeneticVariation BEFREE Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit. 18398334 2008
dbSNP: rs387906402
rs387906402
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.820 GeneticVariation UNIPROT A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. 8524790 1995
dbSNP: rs137852707
rs137852707
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.800 GeneticVariation UNIPROT A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. 8524790 1995
dbSNP: rs137852708
rs137852708
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.800 GeneticVariation UNIPROT A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. 8524790 1995
dbSNP: rs137852705
rs137852705
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.710 GeneticVariation UNIPROT A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. 8524790 1995
dbSNP: rs387906402
rs387906402
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.820 GeneticVariation UNIPROT A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel. 9626162 1998
dbSNP: rs137852707
rs137852707
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.800 GeneticVariation UNIPROT A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel. 9626162 1998
dbSNP: rs137852708
rs137852708
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.800 GeneticVariation UNIPROT A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel. 9626162 1998
dbSNP: rs137852705
rs137852705
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.710 GeneticVariation UNIPROT A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel. 9626162 1998
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
dbSNP: rs3743966
rs3743966
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE AA + AT genotype of rs3743966 was also found to maybe a risk factor of hypertension by logistic regression and transmission/disequilibrium test. 24888492 2014