CALU, calumenin, 813

N. diseases: 33; 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: 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: rs1043595
rs1043595 		7 128769958 3 prime UTR variant G/A snv 0.19
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2019
dbSNP: rs1043595
rs1043595 		7 128769958 3 prime UTR variant G/A snv 0.19
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs113520408
rs113520408 		7 128762728 intron variant G/A snv 0.19
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs4559164
rs4559164 		7 128761756 intron variant G/C;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
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