Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202114767
rs202114767
SLC12A3 ; MIR6863
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.800 CausalMutation CLINVAR Eplerenone improved hypokalemia in a patient with Gitelman's syndrome. 22214629

2012
dbSNP: rs202114767
rs202114767
SLC12A3 ; MIR6863
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.800 CausalMutation CLINVAR Spectrum of mutations in Gitelman syndrome. 21415153

2011
dbSNP: rs202114767
rs202114767
SLC12A3 ; MIR6863
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.800 CausalMutation CLINVAR Rare independent mutations in renal salt handling genes contribute to blood pressure variation. 18391953

2008
dbSNP: rs202114767
rs202114767
SLC12A3 ; MIR6863
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.800 CausalMutation CLINVAR Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome. 12039972

2002
dbSNP: rs202114767
rs202114767
SLC12A3 ; MIR6863
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.800 CausalMutation CLINVAR Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. 8528245

1996
dbSNP: rs202114767
rs202114767
SLC12A3 ; MIR6863
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.800 GeneticVariation CLINVAR