SAG, S-antigen visual arrestin, 6295

N. diseases: 97; N. variants: 9
Disease: Oguchi Disease 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: rs587777209
rs587777209 		1.000 0.080 2 233328488 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C4551824
Disease: Oguchi Disease 1
Oguchi Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0