OPN1LW, opsin 1, long wave sensitive, 5956

N. diseases: 197; N. variants: 6
Disease: Cone monochromatism ×
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: rs121434621
rs121434621 		0.882 0.120 X 154154602 missense variant T/C snv
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.820 1.000 2 2012 2013
dbSNP: rs782797093
rs782797093 		1.000 0.120 X 154156469 missense variant C/T snv 5.5E-06
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 2 1993 1995
dbSNP: rs104894912
rs104894912 		1.000 0.120 X 154154734 stop gained C/T snv
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs781915220
rs781915220 		0.925 0.160 X 154150787 missense variant A/G snv 5.5E-06
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019