Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. | 25192045 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia. | 25224326 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. | 25192045 | 2014 |