SAG, S-antigen visual arrestin, 6295

N. diseases: 97; N. variants: 9
Disease: Oguchi disease ×
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: rs201153410
rs201153410 		0.925 0.080 2 233328542 stop gained C/T snv 1.3E-04 2.0E-04
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs397514682
rs397514682 		0.925 0.080 2 233335071 stop gained G/A;T snv 1.2E-05; 4.0E-06
CUI: C1306122
Disease: Oguchi disease
Oguchi disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012