OPN1MW, opsin 1, medium wave sensitive, 2652

N. diseases: 107; N. variants: 5
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: rs104894914
rs104894914
0.851 0.120 X 154191716 missense variant T/C snv
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.810 1.000 2 1995 2012
dbSNP: rs267606927
rs267606927
0.925 0.120 X 154190173 missense variant T/C snv
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010