SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
Disease: Gitelman Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. 22009145 2012
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation BEFREE 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
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
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
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome. 15687331 2005
dbSNP: rs185927948
rs185927948
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.810 GeneticVariation UNIPROT Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. 8900229 1996