Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800456
rs1800456
OAT
0.700 GeneticVariation UNIPROT Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. 23076989

2013
dbSNP: rs1800456
rs1800456
OAT
0.700 GeneticVariation UNIPROT A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. 7668253

1995
dbSNP: rs1800456
rs1800456
OAT
0.700 GeneticVariation UNIPROT Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. 7887415

1995
dbSNP: rs1800456
rs1800456
OAT
0.700 GeneticVariation UNIPROT Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. 1737786

1992
dbSNP: rs1800456
rs1800456
OAT
0.700 GeneticVariation UNIPROT Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. 1612597

1992
dbSNP: rs1800456
rs1800456
OAT
0.700 GeneticVariation UNIPROT Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy. 2793865

1989
dbSNP: rs1800456
rs1800456
OAT
0.700 GeneticVariation UNIPROT Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. 3375240

1988