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: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
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: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
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: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
dbSNP: rs121965039
rs121965039 		0.851 0.160 10 124408601 missense variant C/A;T snv 8.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2003 2003
dbSNP: rs121965039
rs121965039 		0.851 0.160 10 124408601 missense variant C/A;T snv 8.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2003 2003
dbSNP: rs121965039
rs121965039 		0.851 0.160 10 124408601 missense variant C/A;T snv 8.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2003 2003
dbSNP: rs121965039
rs121965039 		0.851 0.160 10 124408601 missense variant C/A;T snv 8.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2003 2003
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: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.720 1.000 9 1988 2019
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: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
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: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
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: rs121965043
rs121965043 		1.000 0.080 10 124398057 missense variant A/C;G snv 4.0E-06; 2.7E-04
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 8 1988 2013