Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs181509591
rs181509591
SLC2A9 ; LOC105374476
0.800 GeneticVariation UNIPROT Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. 21810765

2012
dbSNP: rs776127501
rs776127501
SLC2A9
0.800 GeneticVariation UNIPROT Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. 21810765

2012
dbSNP: rs863225072
rs863225072
SLC2A9
0.800 GeneticVariation UNIPROT Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. 21810765

2012
dbSNP: rs181509591
rs181509591
SLC2A9 ; LOC105374476
0.800 GeneticVariation UNIPROT Homozygous SLC2A9 mutations cause severe renal hypouricemia. 19926891

2010
dbSNP: rs776127501
rs776127501
SLC2A9
0.800 GeneticVariation UNIPROT Homozygous SLC2A9 mutations cause severe renal hypouricemia. 19926891

2010
dbSNP: rs863225072
rs863225072
SLC2A9
0.800 GeneticVariation UNIPROT Homozygous SLC2A9 mutations cause severe renal hypouricemia. 19926891

2010
dbSNP: rs181509591
rs181509591
SLC2A9 ; LOC105374476
0.800 GeneticVariation UNIPROT Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. 19026395

2008
dbSNP: rs776127501
rs776127501
SLC2A9
0.800 GeneticVariation UNIPROT Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. 19026395

2008
dbSNP: rs863225072
rs863225072
SLC2A9
0.800 GeneticVariation UNIPROT Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. 19026395

2008
dbSNP: rs181509591
rs181509591
SLC2A9 ; LOC105374476
A 0.800 CausalMutation CLINVAR

dbSNP: rs776127501
rs776127501
SLC2A9
A 0.800 CausalMutation CLINVAR

dbSNP: rs863225072
rs863225072
SLC2A9
C 0.800 CausalMutation CLINVAR

dbSNP: rs121908321
rs121908321
SLC2A9
0.710 GeneticVariation BEFREE This is the second report indicating RHUC2 patient due to GLUT9 mutation R380W. 24940677

2014
dbSNP: rs121908321
rs121908321
SLC2A9
0.710 GeneticVariation UNIPROT Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. 21810765

2012
dbSNP: rs121908321
rs121908321
SLC2A9
0.710 GeneticVariation UNIPROT Homozygous SLC2A9 mutations cause severe renal hypouricemia. 19926891

2010
dbSNP: rs121908321
rs121908321
SLC2A9
0.710 GeneticVariation UNIPROT Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. 19026395

2008
dbSNP: rs121908322
rs121908322
SLC2A9
0.700 GeneticVariation UNIPROT Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. 21810765

2012
dbSNP: rs121908322
rs121908322
SLC2A9
0.700 GeneticVariation UNIPROT Homozygous SLC2A9 mutations cause severe renal hypouricemia. 19926891

2010
dbSNP: rs121908322
rs121908322
SLC2A9
0.700 GeneticVariation UNIPROT Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. 19026395

2008
dbSNP: rs121908323
rs121908323
SLC2A9
C 0.700 CausalMutation CLINVAR

dbSNP: rs775438172
rs775438172
SLC2A9
0.010 GeneticVariation BEFREE In conclusion, to the best of our knowledge, this is the first report of a RHUC2 patient with a GLUT9 mutation, p.W286X, which may be a pathogenic mutation of RHUC2. 31638209

2019
dbSNP: rs763684449
rs763684449
SLC22A12
0.010 GeneticVariation BEFREE This is the second report indicating RHUC2 patient due to GLUT9 mutation R380W. 24940677

2014