| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
C | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma. | 24675358 | 2014 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | Functional characterization of multiple DICER1 mutations in an adolescent. | 26545620 | 2016 |
|||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. | 21266384 | 2011 |
|||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | DICER1 mutations in familial pleuropulmonary blastoma. | 19556464 | 2009 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. | 21266384 | 2011 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | DICER1 mutations in familial pleuropulmonary blastoma. | 19556464 | 2009 |
|||||||
|
|
AT | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. | 26925222 | 2015 |
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|
|
A | 0.700 | CausalMutation | CLINVAR | Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences. | 24909177 | 2014 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR | DICER1 mutations in familial pleuropulmonary blastoma. | 19556464 | 2009 |
|||||||
|
|
A | 0.700 | CausalMutation | CLINVAR |