OPN1SW, opsin 1, short wave sensitive, 611

N. diseases: 164; N. variants: 6
Disease: Color blindness ×
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: 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: 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