Disease: Hypouricemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907896
rs121907896
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0221333
Disease:
Hypouricemia 		0.030 GeneticVariation BEFREE Screening of just two ethnic-specific variants (p.Trp258* and p.Arg90His) identified 87.7% (71/81) of Korean patients with monogenic hypouricemia. 31591475 2019
dbSNP: rs121907896
rs121907896
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0221333
Disease:
Hypouricemia 		0.030 GeneticVariation BEFREE Hypouricemia is a disorder that serum urate level is less than 2.0 mg/dl, and relatively common in the Japanese population, where the main genetic cause of hypouricemia is W258X and R90H mutations in human urate trasnsporter 1(SLC22A12). 23148994 2013
dbSNP: rs121907896
rs121907896
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0221333
Disease:
Hypouricemia 		0.030 GeneticVariation BEFREE The W258X and/or R90H mutations in the SLC22A12 gene are one of the major factors responsible for hypouricaemia, and one-third of the hypouricaemic subjects had one or both of the mutant alleles. 19019168 2008