Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs137852704
rs137852704
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0020538
Disease:
Hypertensive disease 		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: 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: 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: 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: 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
dbSNP: rs387906402
rs387906402
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.820 GeneticVariation UNIPROT Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit. 15483078 2005
dbSNP: rs387906402
rs387906402
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.820 GeneticVariation UNIPROT Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. 7550319 1995
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 UNIPROT Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene. 8601645 1996
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: rs387906402
rs387906402
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.820 GeneticVariation UNIPROT Genetic analysis of the epithelial sodium channel in Liddle's syndrome. 9794716 1998
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: 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: 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 Genetic analysis of the epithelial sodium channel in Liddle's syndrome. 9794716 1998
dbSNP: rs137852707
rs137852707
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.800 GeneticVariation UNIPROT Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene. 8601645 1996
dbSNP: rs137852707
rs137852707
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.800 GeneticVariation UNIPROT Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit. 15483078 2005
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: 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: rs137852707
rs137852707
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
CUI: C0221043
Disease:
Liddle Syndrome 		0.800 GeneticVariation UNIPROT Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. 7550319 1995