Variant: rs202114767 

    present in Gene: SLC12A3;MIR6863
    present in Chromosome: 16
    Position on Chromosome: 56904402
    Alleles of this Variant: G/A

rs202114767 in SLC12A3;MIR6863 gene and Gitelman Syndrome PMID 8528245 1996 Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.

PMID 21415153 2011 Spectrum of mutations in Gitelman syndrome.

PMID 22214629 2012 Eplerenone improved hypokalemia in a patient with Gitelman's syndrome.

PMID 21343949 2011 Clinical utility gene card for: Gitelman syndrome.

PMID 18391953 2008 Rare independent mutations in renal salt handling genes contribute to blood pressure variation.

PMID 12039972 2002 Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome.