| Mechanism | Number in HGMD |
|---|---|
| Nonsynonymous coding variants | 40228 |
| Affecting splicing | 4668 |
| Affecting transcription level | |
| Affecting DNA binding | 599 |
| Distant enhancers |
In three surveys of allelic-specific transcription, 20-40% of genes have been found to contain noncoding variants that alter gene expression level.