| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. | 23261302 | 2013 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. | 16627867 | 2006 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. | 11788826 | 2002 |
|||
|
TA | 0.700 | GeneticVariation | CLINVAR | The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. | 24498942 | 2014 |
|||
|
TA | 0.700 | GeneticVariation | CLINVAR | DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. | 16627867 | 2006 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
CTA | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. | 11788826 | 2002 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. | 16627867 | 2006 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. | 16627867 | 2006 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. | 11788826 | 2002 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. | 26228299 | 2016 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. | 16627867 | 2006 |