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: 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: rs386833616
rs386833616 		10 124403859 missense variant C/T snv 4.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2005 2005
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs386833603
rs386833603 		10 124408893 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386833605
rs386833605 		10 124408803 missense variant C/T snv
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386833606
rs386833606 		10 124408790 inframe deletion CTC/- delins
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386833607
rs386833607 		10 124408783 frameshift variant -/A delins 8.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386833608
rs386833608 		10 124408639 splice acceptor variant T/C snv
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386833609
rs386833609 		10 124408633 splice acceptor variant CTCCTATCA/- delins
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386833610
rs386833610 		10 124408637 missense variant C/T snv
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386833611
rs386833611 		10 124408576 inframe deletion TTCACGGTATAGCCC/- delins
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386833612
rs386833612 		10 124405547 frameshift variant CCCCA/- delins
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs386833613
rs386833613 		10 124405542 missense variant G/A snv 4.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0