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: rs104894429
rs104894429 		1.000 0.160 13 40807376 stop gained C/T snv 6.8E-05 4.9E-05
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs202247806
rs202247806 		1.000 0.160 13 40793270 missense variant C/A;T snv 4.0E-06
CUI: C0599035
Disease: Hyperornithinemia
Hyperornithinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014