| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. | 22387996 | 2012 | |||||||
|
|
|
G | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. | 22387996 | 2012 | ||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. | 22387996 | 2012 | ||||||
|
|
|
TC | 0.700 | CausalMutation | CLINVAR | Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. | 22387996 | 2012 | ||||||
|
|
|
GGCGTC | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
CT | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
CT | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
CA | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
CA | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
CA | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR |