Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Comprehensive genomic analysis of patients with disorders of cerebral cortical development. | 29706646 | 2018 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Comprehensive genomic analysis of patients with disorders of cerebral cortical development. | 29706646 | 2018 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. | 19770472 | 2009 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | ASPM is a major determinant of cerebral cortical size. | 12355089 | 2002 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | ASPM is a major determinant of cerebral cortical size. | 12355089 | 2002 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
AT | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |