Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763684449
rs763684449
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia
0.010 GeneticVariation BEFREE Identification of a hypouricemia patient with SLC2A9 R380W, a pathogenic mutation for renal hypouricemia type 2. 24940677 2014