Disease: Optic Atrophy 1 ×
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: rs80356525
rs80356525 		0.882 0.200 19 45553741 stop gained G/A;C snv
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015