| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
AT | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. | 24518672 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. | 24568568 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. | 23993197 | 2013 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. | 26139845 | 2015 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. | 23993197 | 2013 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. | 24568568 | 2014 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. | 24518672 | 2014 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. | 23993197 | 2013 |
|||
|
CT | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. | 24518672 | 2014 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR |