Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908007
rs121908007
SUOX
0.800 GeneticVariation UNIPROT Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients. 12112661

2002
dbSNP: rs121908007
rs121908007
SUOX
A 0.800 GeneticVariation CLINVAR A novel mutation in neonatal isolated sulphite oxidase deficiency. 12368985

2002
dbSNP: rs121908007
rs121908007
SUOX
0.800 GeneticVariation UNIPROT A novel mutation in neonatal isolated sulphite oxidase deficiency. 12368985

2002
dbSNP: rs121908008
rs121908008
SUOX
0.800 GeneticVariation UNIPROT Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients. 12112661

2002
dbSNP: rs121908008
rs121908008
SUOX
0.800 GeneticVariation UNIPROT A novel mutation in neonatal isolated sulphite oxidase deficiency. 12368985

2002
dbSNP: rs121908009
rs121908009
SUOX
0.800 GeneticVariation UNIPROT A novel mutation in neonatal isolated sulphite oxidase deficiency. 12368985

2002
dbSNP: rs121908009
rs121908009
SUOX
0.800 GeneticVariation UNIPROT Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients. 12112661

2002
dbSNP: rs121908007
rs121908007
SUOX
0.800 GeneticVariation UNIPROT Isolated sulfite oxidase deficiency: review of two cases in one family. 10519592

1999
dbSNP: rs121908008
rs121908008
SUOX
0.800 GeneticVariation UNIPROT Isolated sulfite oxidase deficiency: review of two cases in one family. 10519592

1999
dbSNP: rs121908009
rs121908009
SUOX
0.800 GeneticVariation UNIPROT Isolated sulfite oxidase deficiency: review of two cases in one family. 10519592

1999
dbSNP: rs121908007
rs121908007
SUOX
0.800 GeneticVariation UNIPROT Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme. 9600976

1998
dbSNP: rs121908007
rs121908007
SUOX
A 0.800 GeneticVariation CLINVAR Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme. 9600976

1998
dbSNP: rs121908008
rs121908008
SUOX
0.800 GeneticVariation UNIPROT Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme. 9600976

1998
dbSNP: rs121908009
rs121908009
SUOX
0.800 GeneticVariation UNIPROT Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidase-deficient patient and expression and characterization of the mutant enzyme. 9600976

1998
dbSNP: rs121908007
rs121908007
SUOX
0.800 GeneticVariation UNIPROT Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. 9428520

1997
dbSNP: rs121908008
rs121908008
SUOX
0.800 GeneticVariation UNIPROT Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. 9428520

1997
dbSNP: rs121908009
rs121908009
SUOX
0.800 GeneticVariation UNIPROT Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. 9428520

1997
dbSNP: rs121908007
rs121908007
SUOX
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908008
rs121908008
SUOX
A 0.800 CausalMutation CLINVAR

dbSNP: rs121908009
rs121908009
SUOX
A 0.800 CausalMutation CLINVAR

dbSNP: rs747461754
rs747461754
SUOX
0.710 GeneticVariation BEFREE Mutation analysis of SUOX revealed homozygous c.1200C > G mutations, resulting in an amino acid substitution of tyrosine to a stop codon (Y400X).The diagnosis of ISOD was made. 28629418

2017
dbSNP: rs747461754
rs747461754
SUOX
G 0.710 CausalMutation CLINVAR Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency. 23994568

2013
dbSNP: rs1555198521
rs1555198521
SUOX
AG 0.700 CausalMutation CLINVAR Prenatal brain disruption in isolated sulfite oxidase deficiency. 28629418

2017
dbSNP: rs773937413
rs773937413
SUOX
C 0.700 CausalMutation CLINVAR Prenatal brain disruption in isolated sulfite oxidase deficiency. 28629418

2017
dbSNP: rs1555198521
rs1555198521
SUOX
AG 0.700 CausalMutation CLINVAR Prenatal multicystic encephalopathy in isolated sulfite oxidase deficiency with a novel mutaion. 24938149

2014