Variant: rs137852635 

    present in Gene: LOC107984500;SCNN1A
    present in Chromosome: 12
    Position on Chromosome: 6348198
    Alleles of this Variant: G/A

rs137852635 in LOC107984500;SCNN1A gene and Pseudohypoaldosteronism, Type I, Autosomal Recessive PMID 15853823 2005 Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

PMID 10586178 1999 Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel.

PMID 18634878 2008 Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.