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: rs386833601
rs386833601 		10 124411670 intron variant G/C snv
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121965056
rs121965056 		10 124405457 stop gained A/G;T snv 4.0E-06; 1.6E-05
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 1992 2017
dbSNP: rs121965057
rs121965057 		1.000 0.080 10 124402930 stop gained G/C snv 1.6E-05 2.8E-05
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 1992 2012
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: 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: rs121965057
rs121965057 		1.000 0.080 10 124402930 stop gained G/C snv 1.6E-05 2.8E-05
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: 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: rs267606923
rs267606923 		10 124405551 stop gained C/T snv
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs267606924
rs267606924 		10 124403003 stop gained C/T snv 4.0E-06
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: rs386833617
rs386833617 		10 124403821 stop gained G/A;T snv 8.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386833623
rs386833623 		10 124401749 stop gained G/A snv 2.4E-05 7.0E-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: 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: 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
dbSNP: rs386833621
rs386833621 		1.000 0.080 10 124401788 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 8 1988 2013
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: 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: 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: 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: 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: 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: 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: rs121965046
rs121965046 		1.000 0.080 10 124403835 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1988 2013