| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. | 24038957 | 2013 |
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|
T | 0.700 | GeneticVariation | CLINVAR | The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. | 18684116 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR |