Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs568513106
rs568513106
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		C 0.800 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs568513106
rs568513106
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		C 0.800 GeneticVariation CLINVAR Rare independent mutations in renal salt handling genes contribute to blood pressure variation. 18391953

2008