Variants | Data sources | #Variants | #Genes | #Diseases/Phenotypes/Traits |
---|---|---|---|---|
Mendelian disease variants | OMIM, ClinVar | 27,558 | 2,229 | 5,317 |
Complex disease variants | GWAS catalog, VarDi | 20,964 | 2,615 | 1,243 |
Cancer predisposing germline variants | HGMD professional | 5,809 | 294 | 260 |
Recurrent cancer somatic mutations | COSMIC | 43,364 | 14,649 | 296 |