OAT, ornithine aminotransferase, 4942

N. diseases: 92; N. variants: 71
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518927
rs1057518927 		0.925 0.080 10 124402952 missense variant T/C snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518927
rs1057518927 		0.925 0.080 10 124402952 missense variant T/C snv
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1057518927
rs1057518927 		0.925 0.080 10 124402952 missense variant T/C snv
CUI: C4025836
Disease: Abnormal choroid morphology
Abnormal choroid morphology 		0.700 0
dbSNP: rs1057518927
rs1057518927 		0.925 0.080 10 124402952 missense variant T/C snv
CUI: C3887875
Disease: Visual field defects
Visual field defects 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs11553554
rs11553554 		1.000 0.080 10 124412020 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965034
rs121965034 		10 124412169 start lost C/T snv
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965035
rs121965035 		10 124405532 inframe deletion CAG/- delins
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965036
rs121965036 		10 124398076 stop gained G/A;C snv 4.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965037
rs121965037 		1.000 0.080 10 124412009 missense variant A/G snv 7.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965038
rs121965038 		1.000 0.080 10 124408887 missense variant C/A snv
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965039
rs121965039 		0.851 0.160 10 124408601 missense variant C/A;T snv 8.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965040
rs121965040 		1.000 0.080 10 124405545 missense variant C/G snv 7.2E-05 7.7E-05
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965041
rs121965041 		1.000 0.080 10 124403019 missense variant C/G snv
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965042
rs121965042 		1.000 0.080 10 124403015 missense variant C/T snv
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965045
rs121965045 		1.000 0.080 10 124400875 missense variant C/G snv
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965046
rs121965046 		1.000 0.080 10 124403835 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965047
rs121965047 		0.925 0.080 10 124401746 missense variant C/T snv 4.0E-06
CUI: C4017305
Disease: GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA 		0.700 0
dbSNP: rs121965048
rs121965048 		1.000 0.080 10 124412010 missense variant G/T snv 1.2E-05 1.4E-05
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965049
rs121965049 		1.000 0.080 10 124401785 missense variant G/A snv
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965050
rs121965050 		10 124405534 missense variant C/T snv
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965051
rs121965051 		1.000 0.080 10 124403847 missense variant G/A;C snv 3.6E-05
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965052
rs121965052 		1.000 0.080 10 124403820 missense variant C/G;T snv 4.8E-05
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965053
rs121965053 		1.000 0.080 10 124400941 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965054
rs121965054 		1.000 0.080 10 124398082 missense variant A/G snv
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965055
rs121965055 		10 124398061 stop gained C/A snv 4.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0