Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894031
rs104894031
OPN1SW
0.800 GeneticVariation UNIPROT Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. 23022137

2012
dbSNP: rs104894032
rs104894032
OPN1SW
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
OPN1SW ; CALU
0.800 GeneticVariation UNIPROT Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. 23022137

2012
dbSNP: rs104894031
rs104894031
OPN1SW
0.800 GeneticVariation UNIPROT Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. 1386496

1992
dbSNP: rs104894031
rs104894031
OPN1SW
0.800 GeneticVariation UNIPROT Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728

1992
dbSNP: rs104894032
rs104894032
OPN1SW
0.800 GeneticVariation UNIPROT Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. 1386496

1992
dbSNP: rs104894032
rs104894032
OPN1SW
0.800 GeneticVariation UNIPROT Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728

1992
dbSNP: rs104894033
rs104894033
OPN1SW ; CALU
0.800 GeneticVariation UNIPROT Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. 1386496

1992
dbSNP: rs104894033
rs104894033
OPN1SW ; CALU
0.800 GeneticVariation UNIPROT Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728

1992
dbSNP: rs104894031
rs104894031
OPN1SW
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894032
rs104894032
OPN1SW
G 0.800 CausalMutation CLINVAR

dbSNP: rs104894033
rs104894033
OPN1SW ; CALU
A 0.800 CausalMutation CLINVAR

dbSNP: rs1190183515
rs1190183515
OPN1SW
0.700 GeneticVariation UNIPROT

dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.010 GeneticVariation BEFREE The possible interaction between folic acid supplementation and MTRR 66A>G, if confirmed, would strengthen evidence for prepregnancy folate protection against CBT. 25809864

2015
dbSNP: rs11203289
rs11203289
SDHB
0.010 GeneticVariation BEFREE The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation. 22351710

2012
dbSNP: rs1131691061
rs1131691061
SDHB
0.010 GeneticVariation BEFREE The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation. 22351710

2012
dbSNP: rs1398198098
rs1398198098
SDHA ; CCDC127
0.010 GeneticVariation BEFREE The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation. 22351710

2012
dbSNP: rs587776652
rs587776652
SDHC
0.010 GeneticVariation BEFREE The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation. 22351710

2012
dbSNP: rs80338842
rs80338842
SDHD ; TIMM8B
0.010 GeneticVariation BEFREE The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation. 22351710

2012
dbSNP: rs878854590
rs878854590
SDHD
0.010 GeneticVariation BEFREE The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation. 22351710

2012
dbSNP: rs662
rs662
PON1
0.010 GeneticVariation BEFREE The Q192R polymorphism, which alters the structure of PON1 and influences enzyme activity in a substrate-dependent manner, was not associated with CBT risk, nor was the PON1(C-108T/Q192R) haplotype. 16002382

2005