OPN1SW, opsin 1, short wave sensitive, 611

N. diseases: 164; N. variants: 6
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: rs104894031
rs104894031 		1.000 0.120 7 128775556 missense variant C/T snv 3.3E-04 1.7E-04
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
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
dbSNP: rs104894033
rs104894033 		0.925 0.120 7 128773786 missense variant G/A snv 3.2E-05 3.5E-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
dbSNP: rs55985730
rs55985730 		1.000 0.080 7 128776990 upstream gene variant T/G snv 4.1E-02
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 2 2018 2018
dbSNP: rs1190183515
rs1190183515 		1.000 0.120 7 128774616 missense variant G/A snv
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894033
rs104894033 		0.925 0.120 7 128773786 missense variant G/A snv 3.2E-05 3.5E-05
CUI: C0009398
Disease: Color vision defect
Color vision defect 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs104894033
rs104894033 		0.925 0.120 7 128773786 missense variant G/A snv 3.2E-05 3.5E-05
CUI: C0242225
Disease: Color blindness
Color blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1217564642
rs1217564642 		1.000 0.120 7 128773728 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0009398
Disease: Color vision defect
Color vision defect 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1217564642
rs1217564642 		1.000 0.120 7 128773728 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0242225
Disease: Color blindness
Color blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012