Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146632606
rs146632606
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		C 0.800 GeneticVariation CLINVAR Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements. 23328711

2013
dbSNP: rs146632606
rs146632606
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		C 0.800 GeneticVariation CLINVAR Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. 22009145

2012