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: C0473219
Disease:
Renal hypouricemia 		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
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		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
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		A 0.810 CausalMutation CLINVAR Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese. 18492088 2008
dbSNP: rs121907896
rs121907896
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		A 0.810 CausalMutation CLINVAR Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects. 19019168 2008
dbSNP: rs121907896
rs121907896
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		A 0.810 CausalMutation CLINVAR Rapid detection of R90H mutations in the human urate transporter 1 gene. 17362586 2007
dbSNP: rs121907896
rs121907896
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		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
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		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
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		A 0.810 CausalMutation CLINVAR Mutational analysis of idiopathic renal hypouricemia in Korea. 15912381 2005
dbSNP: rs121907896
rs121907896
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		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
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		A 0.810 CausalMutation CLINVAR A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. 15327384 2004
dbSNP: rs121907896
rs121907896
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		0.810 GeneticVariation UNIPROT
dbSNP: rs505802
rs505802
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		T 0.800 GeneticVariation GWASCAT Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals. 30993211 2019
dbSNP: rs10897518
rs10897518
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		C 0.800 GeneticVariation GWASCAT Modulation of genetic associations with serum urate levels by body-mass-index in humans. 25811787 2015
dbSNP: rs505802
rs505802
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		C 0.800 GeneticVariation GWASCAT Modulation of genetic associations with serum urate levels by body-mass-index in humans. 25811787 2015
dbSNP: rs765990518
rs765990518
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		0.800 GeneticVariation UNIPROT Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease. 26418379 2015
dbSNP: rs10897518
rs10897518
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		0.800 GeneticVariation GWASDB Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. 19503597 2009
dbSNP: rs505802
rs505802
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		T 0.800 GeneticVariation GWASCAT Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. 19503597 2009
dbSNP: rs505802
rs505802
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		T 0.800 GeneticVariation GWASDB Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. 19503597 2009
dbSNP: rs765990518
rs765990518
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		0.800 GeneticVariation UNIPROT Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout. 16837472 2007
dbSNP: rs765990518
rs765990518
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		0.800 GeneticVariation UNIPROT Mutational analysis of idiopathic renal hypouricemia in Korea. 15912381 2005
dbSNP: rs765990518
rs765990518
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		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
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		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
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		0.800 GeneticVariation UNIPROT A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. 15327384 2004
dbSNP: rs765990518
rs765990518
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		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
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
CUI: C0473219
Disease:
Renal hypouricemia 		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