Source: CURATED ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | A 44-year-old man with eye, kidney, and brain dysfunction. | 26691497 | 2016 |
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|
T | 0.700 | GeneticVariation | CLINVAR | C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. | 17660820 | 2007 |