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: rs374324018
rs374324018
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.800 GeneticVariation CLINVAR Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies. 22934535 2013
dbSNP: rs374324018
rs374324018
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Gitelman syndrome. 21343949 2011
dbSNP: rs374324018
rs374324018
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.800 GeneticVariation CLINVAR Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. 17654016 2007