Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs185927948
rs185927948
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Graves' disease and Gitelman syndrome. 26041598

2016
dbSNP: rs185927948
rs185927948
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Clinical and genetic analyses of Chinese patients with Gitelman syndrome. 27173320

2016
dbSNP: rs185927948
rs185927948
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR SLC26A3 gene analysis in patients with Bartter and Gitelman syndromes and the clinical characteristics of patients with unidentified mutations. 23756661

2013
dbSNP: rs185927948
rs185927948
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Concurrence of thyrotoxicosis and Gitelman's syndrome-associated hypokalemia-induced periodic paralysis. 22802996

2012
dbSNP: rs185927948
rs185927948
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR A case of Gitelman syndrome associated with idiopathic intracranial hypertension. 21757836

2011
dbSNP: rs185927948
rs185927948
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Inheritance of an autosomal recessive disorder, Gitelman's syndrome, across two generations in one family. 21628937

2011
dbSNP: rs185927948
rs185927948
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome. 17873326

2007
dbSNP: rs185927948
rs185927948
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR While the T180K variation was just a polymorphism, the L849H mutation was confirmed to be a loss-of-function mutation and appears to be responsible for the Gitelman's syndrome. 16471174

2005
dbSNP: rs185927948
rs185927948
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Although the blood pressure levels of subjects heterozygous for the T180K, A569V, or L849H genotype were not significantly different from those of wild-type subjects, urine pH in subjects with GS mutations was significantly higher than that in subjects without mutations. 15198479

2004
dbSNP: rs185927948
rs185927948
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. 15069170

2004
dbSNP: rs185927948
rs185927948
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis. 12911530

2003
dbSNP: rs185927948
rs185927948
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.810 CausalMutation CLINVAR Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. 10616841

2000