| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.730 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. | 23486992 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Hereditary myopathy with early respiratory failure: occurrence in various populations. | 23606733 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. | 24231549 | 2014 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Truncations of titin causing dilated cardiomyopathy. | 22335739 | 2012 |
|||
|
AT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
CTT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |