Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907896
rs121907896
SLC22A12
0.810 GeneticVariation BEFREE Among several reported nonsynonymous URAT1 variants, R90H (rs121907896) and W258X (rs121907892) are frequent causative mutations for renal hypouricemia. 26821810

2016
dbSNP: rs121907896
rs121907896
SLC22A12
A 0.810 CausalMutation CLINVAR A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1. 22045201

2012
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: rs121907896
rs121907896
SLC22A12
A 0.810 CausalMutation CLINVAR Rapid detection of R90H mutations in the human urate transporter 1 gene. 17362586

2007
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: 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: rs121907896
rs121907896
SLC22A12
A 0.810 CausalMutation CLINVAR 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 A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. 15327384

2004
dbSNP: rs121907896
rs121907896
SLC22A12
0.810 GeneticVariation UNIPROT

dbSNP: rs765990518
rs765990518
SLC22A12
0.800 GeneticVariation UNIPROT Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease. 26418379

2015
dbSNP: rs765990518
rs765990518
SLC22A12
0.800 GeneticVariation UNIPROT Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout. 16837472

2007
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: rs765990518
rs765990518
SLC22A12
0.800 GeneticVariation UNIPROT A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. 15327384

2004
dbSNP: rs765990518
rs765990518
SLC22A12
T 0.800 GeneticVariation CLINVAR Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. 14694169

2004
dbSNP: rs765990518
rs765990518
SLC22A12
0.800 GeneticVariation UNIPROT Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. 14694169

2004
dbSNP: rs765990518
rs765990518
SLC22A12
0.800 GeneticVariation UNIPROT Molecular identification of a renal urate anion exchanger that regulates blood urate levels. 12024214

2002
dbSNP: rs121907893
rs121907893
SLC22A12
T 0.800 CausalMutation CLINVAR

dbSNP: rs121907893
rs121907893
SLC22A12
0.800 GeneticVariation UNIPROT

dbSNP: rs121907894
rs121907894
SLC22A12
T 0.800 CausalMutation CLINVAR

dbSNP: rs121907894
rs121907894
SLC22A12
0.800 GeneticVariation UNIPROT

dbSNP: rs121907895
rs121907895
SLC22A12
G 0.800 CausalMutation CLINVAR