Total significance terms: 19
Total variants: 3591080
Total genes and gene combinations: 53592
Total conditions: 24544
Total submitters: 3094
| Submission significance | Variants | Genes | Conditions | Submitters |
|---|---|---|---|---|
| uncertain significance | 1980584 | 39473 | 14476 | 1231 |
| likely benign | 1174530 | 22942 | 11147 | 460 |
| benign | 304785 | 16407 | 9904 | 398 |
| pathogenic | 252445 | 15338 | 12937 | 2215 |
| likely pathogenic | 168232 | 7637 | 10581 | 1760 |
| not provided | 32313 | 3229 | 2614 | 177 |
| drug response | 2750 | 163 | 169 | 46 |
| other | 2170 | 138 | 1123 | 23 |
| risk factor | 1078 | 543 | 487 | 68 |
| association | 500 | 259 | 141 | 59 |
| likely risk allele | 365 | 78 | 54 | 31 |
| uncertain risk allele | 327 | 44 | 30 | 9 |
| affects | 285 | 112 | 98 | 22 |
| protective | 98 | 72 | 59 | 12 |
| pathogenic, low penetrance | 30 | 22 | 18 | 7 |
| confers sensitivity | 20 | 11 | 4 | 3 |
| established risk allele | 19 | 15 | 22 | 15 |
| likely pathogenic, low penetrance | 15 | 13 | 9 | 9 |
| association not found | 8 | 8 | 5 | 5 |