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: rs1800456
rs1800456 		1.000 0.080 10 124397951 missense variant C/A;G;T snv 2.8E-04; 4.0E-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: rs1800456
rs1800456 		1.000 0.080 10 124397951 missense variant C/A;G;T snv 2.8E-04; 4.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386833598
rs386833598 		1.000 0.080 10 124397955 missense variant A/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 1.000 7 1988 2013
dbSNP: rs386833598
rs386833598 		1.000 0.080 10 124397955 missense variant A/T snv 1.2E-05 7.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965058
rs121965058 		10 124397986 stop gained G/A snv 4.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965044
rs121965044 		1.000 0.080 10 124398012 missense variant G/A snv 2.0E-05 4.9E-05
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 7 1988 2013
dbSNP: rs121965044
rs121965044 		1.000 0.080 10 124398012 missense variant G/A snv 2.0E-05 4.9E-05
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 1992 2013
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
dbSNP: rs121965043
rs121965043 		1.000 0.080 10 124398057 missense variant A/C;G snv 4.0E-06; 2.7E-04
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2001 2001
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
dbSNP: rs200068769
rs200068769 		1.000 0.080 10 124398070 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		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: rs386833597
rs386833597 		1.000 0.080 10 124398081 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: rs386833597
rs386833597 		1.000 0.080 10 124398081 missense variant C/T snv
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: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
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: rs386833596
rs386833596 		10 124398090 stop gained C/T snv 7.0E-06
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: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
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: rs767965207
rs767965207 		10 124400877 frameshift variant T/- delins
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs386833595
rs386833595 		10 124400881 missense variant C/T snv
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: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013
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: rs386833594
rs386833594 		10 124400968 frameshift variant T/- delins
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: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 8 1988 2018