Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.800 | GeneticVariation | CLINVAR | "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." | 29100092 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." | 29100092 | 2017 |
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|
C | 0.800 | GeneticVariation | CLINVAR | "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." | 29100092 | 2017 |
|||
|
0.800 | GeneticVariation | UNIPROT | "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." | 29100092 | 2017 |
||||
|
G | 0.800 | GeneticVariation | CLINVAR | "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." | 29100092 | 2017 |
|||
|
0.800 | GeneticVariation | UNIPROT | "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." | 29100092 | 2017 |
||||
|
A | 0.800 | GeneticVariation | CLINVAR | "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." | 29100092 | 2017 |
|||
|
0.800 | GeneticVariation | UNIPROT | "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." | 29100092 | 2017 |
||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""." | 29100092 | 2017 |