Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145337602
rs145337602
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		T 0.700 GeneticVariation CLINVAR Family paralysis. 21256383

2011
dbSNP: rs145337602
rs145337602
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		T 0.700 GeneticVariation CLINVAR Rare independent mutations in renal salt handling genes contribute to blood pressure variation. 18391953

2008
dbSNP: rs145337602
rs145337602
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		T 0.700 GeneticVariation CLINVAR Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. 9734597

1998