Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? | 10633130 | 2000 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? | 10633130 | 2000 |
||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | Y459H and V492E mutations of cytochrome P450 reductase (CYPOR) cause Antley-Bixler syndrome due to diminished binding of the FAD cofactor. | 18455494 | 2008 |
||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | Y459H and V492E mutations of cytochrome P450 reductase (CYPOR) cause Antley-Bixler syndrome due to diminished binding of the FAD cofactor. | 18455494 | 2008 |
||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | Y459H and V492E mutations of cytochrome P450 reductase (CYPOR) cause Antley-Bixler syndrome due to diminished binding of the FAD cofactor. | 18455494 | 2008 |
||||
|
C | 0.700 | CausalMutation | CLINVAR |