| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.720 | CausalMutation | CLINVAR | The p.Glu257Lys variant was 80-fold less frequent in a homozygous state in patients with Leber congenital amaurosis than predicted based on its heterozygosity frequency in the European American population. | 24830548 | 2014 |
|||
|
0.720 | GeneticVariation | BEFREE | NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. | 29674119 | 2018 |
||||
|
A | 0.720 | CausalMutation | CLINVAR | Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. | 22842230 | 2012 |
|||
|
A | 0.720 | CausalMutation | CLINVAR | Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. | 26018082 | 2015 |
|||
|
0.720 | GeneticVariation | BEFREE | The p.Glu257Lys variant was 80-fold less frequent in a homozygous state in patients with Leber congenital amaurosis than predicted based on its heterozygosity frequency in the European American population. | 24830548 | 2014 |
||||
|
A | 0.720 | CausalMutation | CLINVAR | Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. | 22842231 | 2012 |
|||
|
A | 0.720 | GeneticVariation | CLINVAR | Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. | 22842231 | 2012 |
|||
|
A | 0.720 | CausalMutation | CLINVAR | NMNAT1 mutations cause Leber congenital amaurosis. | 22842227 | 2012 |
|||
|
A | 0.720 | CausalMutation | CLINVAR | Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. | 22842229 | 2012 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
TC | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
CG | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
CCGTGCTCT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR |