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: rs568513106
rs568513106
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		C 0.800 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs568513106
rs568513106
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: rs568513106
rs568513106
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
CUI: C0268450
Disease:
Gitelman Syndrome 		C 0.800 GeneticVariation CLINVAR Rare independent mutations in renal salt handling genes contribute to blood pressure variation. 18391953 2008