Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374163823
rs374163823
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.800 GeneticVariation CLINVAR Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay. 27582097

2016
dbSNP: rs374163823
rs374163823
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.800 GeneticVariation CLINVAR Spectrum of mutations in Gitelman syndrome. 21415153

2011
dbSNP: rs374163823
rs374163823
SLC12A3
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		A 0.800 GeneticVariation CLINVAR Inactivation of the Na-Cl co-transporter (NCC) gene is associated with high BMD through both renal and bone mechanisms: analysis of patients with Gitelman syndrome and Ncc null mice. 15824853

2005