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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

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BMC Genomics

ISSN: 1471-2164

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