Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | RAD21 mutations cause a human cohesinopathy. | 22633399 | 2012 |
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|
C | 0.800 | CausalMutation | CLINVAR | RAD21 mutations cause a human cohesinopathy. | 22633399 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
CAG | 0.700 | CausalMutation | CLINVAR | ||||||
|
TG | 0.700 | CausalMutation | CLINVAR | Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. | 30158690 | 2019 |
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|
T | 0.700 | CausalMutation | CLINVAR | Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. | 30158690 | 2019 |
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|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
CT | 0.700 | CausalMutation | CLINVAR | ||||||
|
GCT | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | RAD21 mutations cause a human cohesinopathy. | 22633399 | 2012 |
|||
|
0.800 | GeneticVariation | UNIPROT | RAD21 mutations cause a human cohesinopathy. | 22633399 | 2012 |
||||
|
C | 0.700 | GeneticVariation | CLINVAR | A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. | 30125677 | 2019 |
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|
G | 0.700 | GeneticVariation | CLINVAR |