From: Global inference of disease-causing single nucleotide variants from exome sequencing data
 | Exon | Promoter | Intron | Splice site | |
---|---|---|---|---|---|
Causal | Variant | 8350 | 114 | 303 | 1105 |
Gene | 1063 | 34 | 132 | 280 | |
Control (average) | Variant | 9512 | 18,181 | 2532 | 78 |
Gene | 5336 | 8486 | 2102 | 77 |