RAD21, RAD21 cohesin complex component, 5885
N. diseases: 192; N. variants: 19
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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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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G | 0.800 | CausalMutation | CLINVAR | RAD21 mutations cause a human cohesinopathy. | 22633399 | 2012 | ||||||
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0.800 | GeneticVariation | UNIPROT | RAD21 mutations cause a human cohesinopathy. | 22633399 | 2012 | |||||||
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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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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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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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CAG | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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CT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GCT | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR |