CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: Congenital nystagmus ×
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: rs137852832
rs137852832 		0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0700501
Disease: Congenital nystagmus
Congenital nystagmus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0