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Table 1 Summary of disease variants.

From: Disease-associated variants in different categories of disease located in distinct regulatory elements

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