Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374324018
rs374324018
SLC12A3
A 0.800 GeneticVariation CLINVAR Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies. 22934535

2013
dbSNP: rs374324018
rs374324018
SLC12A3
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Gitelman syndrome. 21343949

2011
dbSNP: rs374324018
rs374324018
SLC12A3
A 0.800 GeneticVariation CLINVAR Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes. 17654016

2007