Variant: rs121912563 

    present in Gene: NR3C2
    present in Chromosome: 4
    Position on Chromosome: 148114132
    Alleles of this Variant: A/G

rs121912563 in NR3C2 gene and Pseudohypoaldosteronism, Type I, Autosomal Dominant PMID 16972228 2007 Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.

PMID 11134129 2000 A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.

PMID 16954160 2006 Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.

PMID 12788847 2003 Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.