rs55985730
×
Entrez Id:
611
Gene Symbol:
OPN1SW
OPN1SW
Atrial Fibrillation
G
0.700
GeneticVariation
GWASCAT
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
30061737
2018
rs55985730
×
Entrez Id:
611
Gene Symbol:
OPN1SW
OPN1SW
Atrial Fibrillation
G
0.700
GeneticVariation
GWASCAT
Multi-ethnic genome-wide association study for atrial fibrillation.
29892015
2018
rs104894033
OPN1SW;CALU
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
rs1217564642
OPN1SW;CALU
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
rs104894031
×
Entrez Id:
611
Gene Symbol:
OPN1SW
OPN1SW
Color Blindness, Blue
T
0.800
CausalMutation
CLINVAR
rs104894031
×
Entrez Id:
611
Gene Symbol:
OPN1SW
OPN1SW
Color Blindness, Blue
0.800
GeneticVariation
UNIPROT
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.
1386496
1992
rs104894031
×
Entrez Id:
611
Gene Symbol:
OPN1SW
OPN1SW
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
rs104894031
×
Entrez Id:
611
Gene Symbol:
OPN1SW
OPN1SW
Color Blindness, Blue
0.800
GeneticVariation
UNIPROT
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
1531728
1992
rs104894032
×
Entrez Id:
611
Gene Symbol:
OPN1SW
OPN1SW
Color Blindness, Blue
0.800
GeneticVariation
UNIPROT
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.
1386496
1992
rs104894032
×
Entrez Id:
611
Gene Symbol:
OPN1SW
OPN1SW
Color Blindness, Blue
G
0.800
CausalMutation
CLINVAR
rs104894032
×
Entrez Id:
611
Gene Symbol:
OPN1SW
OPN1SW
Color Blindness, Blue
0.800
GeneticVariation
UNIPROT
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
1531728
1992
rs104894032
×
Entrez Id:
611
Gene Symbol:
OPN1SW
OPN1SW
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
rs104894033
OPN1SW;CALU
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
rs104894033
OPN1SW;CALU
Color Blindness, Blue
A
0.800
CausalMutation
CLINVAR
rs104894033
OPN1SW;CALU
Color Blindness, Blue
0.800
GeneticVariation
UNIPROT
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.
1386496
1992
rs104894033
OPN1SW;CALU
Color Blindness, Blue
0.800
GeneticVariation
UNIPROT
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
1531728
1992
rs1190183515
×
Entrez Id:
611
Gene Symbol:
OPN1SW
OPN1SW
Color Blindness, Blue
0.700
GeneticVariation
UNIPROT
rs104894033
OPN1SW;CALU
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
rs1217564642
OPN1SW;CALU
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