Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
0.700 | GeneticVariation | UNIPROT | Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. | 1720261 | 1991 |
||||
|
0.700 | GeneticVariation | UNIPROT | Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. | 1720261 | 1991 |
||||
|
0.800 | GeneticVariation | UNIPROT | Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. | 7686424 | 1993 |
||||
|
0.800 | GeneticVariation | UNIPROT | Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. | 7686424 | 1993 |
||||
|
0.700 | GeneticVariation | UNIPROT | Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. | 7686424 | 1993 |