rs104894031
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.
|
23022137 |
2012 |
rs104894032
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.
|
23022137 |
2012 |
rs104894033
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.
|
23022137 |
2012 |
rs104894031
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.
|
1386496 |
1992 |
rs104894031
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
|
1531728 |
1992 |
rs104894032
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.
|
1386496 |
1992 |
rs104894032
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
|
1531728 |
1992 |
rs104894033
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.
|
1386496 |
1992 |
rs104894033
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.
|
1531728 |
1992 |
rs104894031
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894032
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894033
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1190183515
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1801394
|
|
|
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 |
rs11203289
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation.
|
22351710 |
2012 |
rs1131691061
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation.
|
22351710 |
2012 |
rs1398198098
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation.
|
22351710 |
2012 |
rs587776652
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation.
|
22351710 |
2012 |
rs80338842
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation.
|
22351710 |
2012 |
rs878854590
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation.
|
22351710 |
2012 |
rs662
|
|
|
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 |