OAT, ornithine aminotransferase, 4942

N. diseases: 92; N. variants: 71
Disease: Hyperornithinemia ×
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