present in Gene: SCNN1B
present in Chromosome: 16
Position on Chromosome: 23380574
Alleles of this Variant: C/G;T
rs137852704 in
SCNN1B gene and
Decreased circulating renin level
PMID 27900368 2016 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.
rs137852704 in
SCNN1B gene and
Hypertensive disease
PMID 27900368 2016 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.
rs137852704 in
SCNN1B gene and
Hypokalemia
PMID 27900368 2016 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.
rs137852704 in
SCNN1B gene and
Liddle Syndrome
PMID 27900368 2016 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.
rs137852704 in
SCNN1B gene and
Metabolic alkalosis
PMID 27900368 2016 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.
rs137852704 in
SCNN1B gene and
Pseudohypoaldosteronism
PMID 27900368 2016 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.