Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965040
rs121965040
OAT
0.720 GeneticVariation BEFREE R180T variant of δ-ornithine aminotransferase associated with gyrate atrophy: biochemical, computational, X-ray and NMR studies provide insight into its catalytic features. 30957963

2019
dbSNP: rs121965040
rs121965040
OAT
0.720 GeneticVariation BEFREE L402P was not present in 18 non-Finnish GA patients but R180T was found in an American GA patient. 2492100

1989
dbSNP: rs121965043
rs121965043
OAT
0.710 GeneticVariation BEFREE Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase. 11297489

2001
dbSNP: rs121965047
rs121965047
OAT
0.710 GeneticVariation BEFREE Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina. 30251682

2018
dbSNP: rs121965059
rs121965059
OAT
0.710 GeneticVariation BEFREE In extracts of fibroblasts from a second GA patient homozygous for A226V and from Chinese hamster ovary cells expressing an OAT-cDNA-containing A226V, we found that OAT activity increased from undetectable levels to approximately 10% of normal when the concentration of pyridoxal phosphate was increased from 50 to 600 microM. 7887415

1995
dbSNP: rs386833621
rs386833621
OAT
0.710 GeneticVariation BEFREE Two clinical subtypes of gyrate atrophy (GA) have been defined based on in vivo or in vitro evidence of response to vitamin B6 (pyridoxine), which is the cofactor of the enzyme ornithine aminotransferase (OAT) shown to be defective in GA. We identified the E318K mutation in the OAT gene, heterozygously in three patients and homozygously in one patient, all of whom were vitamin B6-responsive by previous in vivo and in vitro studies. 10617919

1999
dbSNP: rs773729673
rs773729673
OAT
0.010 GeneticVariation BEFREE We identified a ‎novel, deleterious, homologous ornithine aminotransferase (<i>OAT</i>) variant, c.G248A: p.S83N, which contributes to ‎the progression of GACR in patients. 30366948

2019
dbSNP: rs121965044
rs121965044
OAT
A 0.800 CausalMutation CLINVAR

dbSNP: rs121965051
rs121965051
OAT
A 0.800 GeneticVariation CLINVAR

dbSNP: rs386833618
rs386833618
OAT
A 0.800 GeneticVariation CLINVAR

dbSNP: rs121965057
rs121965057
OAT
C 0.700 CausalMutation CLINVAR Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation. 22674428

2012
dbSNP: rs121965057
rs121965057
OAT
C 0.700 CausalMutation CLINVAR Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy. 1609808

1992
dbSNP: rs1554867698
rs1554867698
OAT
TTAA 0.700 GeneticVariation CLINVAR

dbSNP: rs1554867854
rs1554867854
OAT
ACTCC 0.700 CausalMutation CLINVAR

dbSNP: rs1564737136
rs1564737136
OAT
C 0.700 GeneticVariation CLINVAR

dbSNP: rs200068769
rs200068769
OAT
A 0.700 CausalMutation CLINVAR

dbSNP: rs386833599
rs386833599
OAT
T 0.700 CausalMutation CLINVAR

dbSNP: rs121965044
rs121965044
OAT
0.800 GeneticVariation UNIPROT Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. 1612597

1992
dbSNP: rs121965044
rs121965044
OAT
0.800 GeneticVariation UNIPROT Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. 23076989

2013
dbSNP: rs121965044
rs121965044
OAT
0.800 GeneticVariation UNIPROT A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. 7668253

1995
dbSNP: rs121965044
rs121965044
OAT
0.800 GeneticVariation UNIPROT Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. 3375240

1988
dbSNP: rs121965044
rs121965044
OAT
0.800 GeneticVariation UNIPROT Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. 1737786

1992
dbSNP: rs121965044
rs121965044
OAT
0.800 GeneticVariation UNIPROT Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy. 2793865

1989
dbSNP: rs121965044
rs121965044
OAT
0.800 GeneticVariation UNIPROT Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. 7887415

1995
dbSNP: rs121965051
rs121965051
OAT
0.800 GeneticVariation UNIPROT Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. 1737786

1992