| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). | 14638541 | 2003 |
||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | De novo genic mutations among a Chinese autism spectrum disorder cohort. | 27824329 | 2016 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. | 23403903 | 2013 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. | 23403903 | 2013 |
|||
|
0.700 | GeneticVariation | UNIPROT | Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). | 14638541 | 2003 |
||||
|
0.700 | GeneticVariation | UNIPROT | Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). | 14638541 | 2003 |
||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR |