OPN1SW, opsin 1, short wave sensitive, 611

N. diseases: 164; N. variants: 6
Disease: Color Blindness, Blue ×
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: rs104894032
rs104894032 		1.000 0.120 7 128774545 missense variant A/C;G snv 3.2E-05; 1.2E-05
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 1.000 3 1992 2012