| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. | 21107338 | 2011 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. | 12077706 | 2002 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. | 12077706 | 2002 |
|||
|
GTTGA | 0.700 | CausalMutation | CLINVAR | Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. | 12077706 | 2002 |
|||
|
GA | 0.700 | CausalMutation | CLINVAR | Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. | 12077706 | 2002 |
|||
|
ATACAG | 0.700 | CausalMutation | CLINVAR | Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. | 12077706 | 2002 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR |