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: rs202114767
rs202114767
Entrez Id: 6559;102466752
Gene Symbol: SLC12A3;MIR6863
SLC12A3;MIR6863
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.800 CausalMutation CLINVAR Eplerenone improved hypokalemia in a patient with Gitelman's syndrome. 22214629 2012
dbSNP: rs202114767
rs202114767
Entrez Id: 6559;102466752
Gene Symbol: SLC12A3;MIR6863
SLC12A3;MIR6863
CUI: C0268450
Disease:
Gitelman Syndrome 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Gitelman syndrome. 21343949 2011
dbSNP: rs202114767
rs202114767
Entrez Id: 6559;102466752
Gene Symbol: SLC12A3;MIR6863
SLC12A3;MIR6863
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.800 CausalMutation CLINVAR Spectrum of mutations in Gitelman syndrome. 21415153 2011
dbSNP: rs202114767
rs202114767
Entrez Id: 6559;102466752
Gene Symbol: SLC12A3;MIR6863
SLC12A3;MIR6863
CUI: C0268450
Disease:
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
Entrez Id: 6559;102466752
Gene Symbol: SLC12A3;MIR6863
SLC12A3;MIR6863
CUI: C0268450
Disease:
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
Entrez Id: 6559;102466752
Gene Symbol: SLC12A3;MIR6863
SLC12A3;MIR6863
CUI: C0268450
Disease:
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
Entrez Id: 6559;102466752
Gene Symbol: SLC12A3;MIR6863
SLC12A3;MIR6863
CUI: C0268450
Disease:
Gitelman Syndrome 		A 0.800 GeneticVariation CLINVAR