SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
Disease: Essential Hypertension ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12708965
rs12708965
Entrez Id: 6559;102466752
Gene Symbol: SLC12A3;MIR6863
SLC12A3;MIR6863
CUI: C0085580
Disease:
Essential Hypertension 		0.010 GeneticVariation BEFREE Our results show that the substitution of arginine for cysteine at position 919 of TSC increases Na transport function, and provide support for the hypothesis that mutations in renal tubular sodium transporters may contribute to the development of primary hypertension, a polygenic disorder, by increasing renal sodium reabsorption. 17885550 2007