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 		0.820 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 BEFREE Finally, the Liddle syndrome was diagnosed because of the DNA sequencing found that the proband's mother and himself had mutations P616L (c.1847 C>T) in the SCNN1B gene. 28236585 2017
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: rs149868979
rs149868979
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0020538
Disease:
Hypertensive disease 		0.020 GeneticVariation BEFREE There were 3 NSV of SCNN1B (R206Q, G442V, and R563Q); 2 previously described and 1 associated with hypertension. 28052878 2017
dbSNP: rs149868979
rs149868979
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0020538
Disease:
Hypertensive disease 		0.020 GeneticVariation BEFREE The R563Q mutation of β-ENaC is associated with hypertension within affected kindreds, but does not usually cause the full Liddle's syndrome phenotype. 21107496 2011
dbSNP: rs1799979
rs1799979
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0020538
Disease:
Hypertensive disease 		0.020 GeneticVariation BEFREE The Thr594Met polymorphism of the ENaC beta-subunit gene SCNN1B occurs exclusively in Black individuals, with a frequency of 6-8% in those with hypertension. 15174897 2004
dbSNP: rs1799979
rs1799979
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0020538
Disease:
Hypertensive disease 		0.020 GeneticVariation BEFREE One patient with T594M in the SCNN1B gene was resistant to hypertension. 15198480 2004
dbSNP: rs149868979
rs149868979
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.010 GeneticVariation BEFREE The R563Q mutation of β-ENaC is associated with hypertension within affected kindreds, but does not usually cause the full Liddle's syndrome phenotype. 21107496 2011
dbSNP: rs1799979
rs1799979
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0745130
Disease:
Resistant hypertensive disorder 		0.010 GeneticVariation BEFREE There is preliminary evidence that amiloride is effective as monotherapy in hypertensive individuals with the Thr594Met polymorphism and in patients with resistant hypertension, who have evidence of increased amiloride-sensitive sodium channel activity. 15174897 2004
dbSNP: rs1799980
rs1799980
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE There were 3 NSV of SCNN1B (R206Q, G442V, and R563Q); 2 previously described and 1 associated with hypertension. 28052878 2017
dbSNP: rs239345
rs239345
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0858598
Disease:
Taste salty 		0.010 GeneticVariation BEFREE The TAS1R2-rs35874116 was not significantly associated with sweet, whereas the SCNN1B-rs239345 was associated (<i>p</i> = 0.040) with salty taste. 30340375 2018
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
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: rs889299
rs889299
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0085580
Disease:
Essential Hypertension 		0.010 GeneticVariation BEFREE Interaction between the rs889299 SNP and functional SNPs in other genes influencing aldosterone-responsive distal tubular electrolyte transport may be important in the etiology of essential hypertension. 18184758 2008
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: rs137852704
rs137852704
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0020621
Disease:
Hypokalemia 		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