Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201181059
rs201181059
SLC22A12
0.700 GeneticVariation UNIPROT Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. 14694169

2004
dbSNP: rs121907896
rs121907896
SLC22A12
A 0.810 CausalMutation CLINVAR Acute renal failure with severe loin pain and patchy renal ischaemia after anaerobic exercise (ALPE) (exercise-induced acute renal failure) in a father and child with URAT1 mutations beyond the W258X mutation. 15741204

2005
dbSNP: rs121907896
rs121907896
SLC22A12
A 0.810 CausalMutation CLINVAR Mutational analysis of idiopathic renal hypouricemia in Korea. 15912381

2005
dbSNP: rs765990518
rs765990518
SLC22A12
0.800 GeneticVariation UNIPROT Mutational analysis of idiopathic renal hypouricemia in Korea. 15912381

2005
dbSNP: rs765990518
rs765990518
SLC22A12
T 0.800 GeneticVariation CLINVAR Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia. 15634722

2005
dbSNP: rs765990518
rs765990518
SLC22A12
0.800 GeneticVariation UNIPROT Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia. 15634722

2005
dbSNP: rs121907892
rs121907892
SLC22A12
A 0.750 CausalMutation CLINVAR W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan. 15912381

2005
dbSNP: rs1047976958
rs1047976958
SLC22A12
0.700 GeneticVariation UNIPROT Mutational analysis of idiopathic renal hypouricemia in Korea. 15912381

2005
dbSNP: rs1047976958
rs1047976958
SLC22A12
0.700 GeneticVariation UNIPROT Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia. 15634722

2005
dbSNP: rs201181059
rs201181059
SLC22A12
0.700 GeneticVariation UNIPROT Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia. 15634722

2005
dbSNP: rs201181059
rs201181059
SLC22A12
0.700 GeneticVariation UNIPROT Mutational analysis of idiopathic renal hypouricemia in Korea. 15912381

2005
dbSNP: rs1421770132
rs1421770132
SLC22A12
0.010 GeneticVariation BEFREE One Japanese patient with renal hypouricemia demonstrated compound heterozygous mutations of the URAT1 gene (Q297X and IVS2+1G>A). 15772829

2005
dbSNP: rs121907896
rs121907896
SLC22A12
A 0.810 CausalMutation CLINVAR Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature. 16703794

2006
dbSNP: rs121907892
rs121907892
SLC22A12
A 0.750 CausalMutation CLINVAR Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature. 16703794

2006
dbSNP: rs121907896
rs121907896
SLC22A12
A 0.810 CausalMutation CLINVAR Rapid detection of R90H mutations in the human urate transporter 1 gene. 17362586

2007
dbSNP: rs765990518
rs765990518
SLC22A12
0.800 GeneticVariation UNIPROT Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout. 16837472

2007
dbSNP: rs1047976958
rs1047976958
SLC22A12
0.700 GeneticVariation UNIPROT Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout. 16837472

2007
dbSNP: rs201181059
rs201181059
SLC22A12
0.700 GeneticVariation UNIPROT Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout. 16837472

2007
dbSNP: rs121907896
rs121907896
SLC22A12
A 0.810 CausalMutation CLINVAR Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese. 18492088

2008
dbSNP: rs121907896
rs121907896
SLC22A12
A 0.810 CausalMutation CLINVAR Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects. 19019168

2008
dbSNP: rs121907892
rs121907892
SLC22A12
A 0.750 CausalMutation CLINVAR Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects. 19019168

2008
dbSNP: rs121907892
rs121907892
SLC22A12
A 0.750 CausalMutation CLINVAR The G774A mutation in the SLC22A12 gene encoding URAT1 predominates in Japanese renal hypouricemia. 18492088

2008
dbSNP: rs121907892
rs121907892
SLC22A12
0.750 GeneticVariation BEFREE The G774A mutation in the SLC22A12 gene encoding URAT1 predominates in Japanese renal hypouricemia. 18492088

2008
dbSNP: rs1451506414
rs1451506414
SLC22A12
0.020 GeneticVariation BEFREE The G774A mutation in the SLC22A12 gene encoding URAT1 predominates in Japanese renal hypouricemia. 18492088

2008
dbSNP: rs121907892
rs121907892
SLC22A12
0.750 GeneticVariation BEFREE We also identified a common nonsense mutation, W258X, responsible for renal hypouricemia. 20714133

2010