Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | Mutations in different components of FGF signaling in LADD syndrome. | 16501574 | 2006 |
||||
|
0.800 | GeneticVariation | UNIPROT | Mutations in different components of FGF signaling in LADD syndrome. | 16501574 | 2006 |
||||
|
0.800 | GeneticVariation | UNIPROT | Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. | 18056630 | 2007 |
||||
|
0.800 | GeneticVariation | UNIPROT | Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation. | 18056630 | 2007 |