| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | GeneticVariation | CLINVAR | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. | 25525159 | 2015 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. | 11339651 | 2001 |