Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
AC | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. | 24747639 | 2014 |
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|
CGGGCA | 0.700 | CausalMutation | CLINVAR | Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. | 24747639 | 2014 |
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|
TGGGCC | 0.700 | CausalMutation | CLINVAR | Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. | 24747639 | 2014 |
|||
|
CGGGCT | 0.700 | CausalMutation | CLINVAR | Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. | 24747639 | 2014 |
|||
|
TGGGCC | 0.700 | CausalMutation | CLINVAR | Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis. | 26777464 | 2016 |
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|
TGGGCC | 0.700 | CausalMutation | CLINVAR | Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. | 24824133 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. | 26139845 | 2015 |