CALU, calumenin, 813

N. diseases: 33; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894033
rs104894033
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0155017
Disease:
Color Blindness, Blue 		0.800 GeneticVariation UNIPROT Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. 23022137 2012
dbSNP: rs104894033
rs104894033
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0155017
Disease:
Color Blindness, Blue 		0.800 GeneticVariation UNIPROT Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. 1386496 1992
dbSNP: rs104894033
rs104894033
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0155017
Disease:
Color Blindness, Blue 		0.800 GeneticVariation UNIPROT Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728 1992
dbSNP: rs104894033
rs104894033
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0155017
Disease:
Color Blindness, Blue 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1043595
rs1043595
Entrez Id: 813
Gene Symbol: CALU
CALU
CUI: C0021704
Disease:
Intelligence 		A 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
dbSNP: rs1043595
rs1043595
Entrez Id: 813
Gene Symbol: CALU
CALU
CUI: C4049938
Disease:
Physical Activity Measurement 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE. 29899525 2018
dbSNP: rs1043595
rs1043595
Entrez Id: 813
Gene Symbol: CALU
CALU
CUI: C0021704
Disease:
Intelligence 		A 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs113520408
rs113520408
Entrez Id: 813
Gene Symbol: CALU
CALU
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs113520408
rs113520408
Entrez Id: 813
Gene Symbol: CALU
CALU
CUI: C0596887
Disease:
mathematical ability 		G 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs4559164
rs4559164
Entrez Id: 813
Gene Symbol: CALU
CALU
CUI: C0596887
Disease:
mathematical ability 		G 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs104894033
rs104894033
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0009398
Disease:
Color vision defect 		0.010 GeneticVariation BEFREE Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency. 23022137 2012
dbSNP: rs104894033
rs104894033
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0242225
Disease:
Color blindness 		0.010 GeneticVariation BEFREE Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency. 23022137 2012
dbSNP: rs1217564642
rs1217564642
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0009398
Disease:
Color vision defect 		0.010 GeneticVariation BEFREE Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency. 23022137 2012
dbSNP: rs1217564642
rs1217564642
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0242225
Disease:
Color blindness 		0.010 GeneticVariation BEFREE Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency. 23022137 2012