Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12140311
rs12140311
0.030 GeneticVariation BEFREE There was no significant association between the SLC12A3 R904Q variant and the ClC-Kb-T481S variant and essential hypertension in either ethnic group. 21644212

2011

dbSNP: rs12140311
rs12140311
0.030 GeneticVariation BEFREE We conclude that CLCNKB-T481S is associated with essential hypertension in males within the Ghanaian population; however, further studies are needed to understand its sex and ethnic segregation as well as to identify cellular factors that account for the divergent functional expression of ClC-Kb-T481S plus barttin in Xenopus oocytes and mammalian cells. 19226700

2009

dbSNP: rs12140311
rs12140311
0.030 GeneticVariation BEFREE In conclusion, the mutation ClC-Kb(T481S) of the renal epithelial Cl- channel ClC-Kb strongly activates ClC-Kb chloride channel function in vitro and may predispose to the development of essential hypertension in vivo. 15148291

2004