Table 4.
Summary of CTCF variants listed in each database.
| Database | Genotype-phenotype associations | All variant entries | Unique variant entries | |||
|---|---|---|---|---|---|---|
| Count | Proportion of all entries | Count | Exclusive to database | Proportion of all entries | ||
| ClinVar | Mixed | 228 | 33.8% | 178 | 78.1% | 26.4% |
| AutDB | ASD | 80 | 11.9% | 0 | 0.00% | 0.00% |
| Gene4denovo | Mixed | 76 | 11.2% | 19 | 25.0% | 2.8% |
| SFARI | ASD | 72 | 10.7% | 14 | 19.4% | 2.1% |
| LOVD | Mixed | 68 | 10.1% | 18 | 26.5% | 2.7% |
| DECIPHER | Mixed | 55 | 8% | 27 | 49.1% | 4.0% |
| VariCarta | ASD | 44 | 6.5% | 3 | 6.8% | 0.04% |
| Denovo-DB | Mixed | 28 | 4.2% | 9 | 32.1% | 1.3% |
| DisGeNET | Mixed | 13 | 1.9% | 3 | 23.1% | 0.04% |
| EGldb | Epilepsy | 8 | 1.2% | 0 | 0.00% | 0.00% |
| DBD | NDD | 7 | 1.0% | 1 | 14.3% | 0.2% |
| Total | 679 | 100% | 272 | n/a | 39.6% | |