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Basic variant consequence annotation

  • VEP v112 - Variant Effect Predictor (GENCODE v46 as gene reference database (v19 for grch37))

Insilico predictions of effect of coding variants

  • dBNSFP - database of non-synonymous functional predictions (v4.8, June 2024)

Variant frequency databases

  • gnomAD - germline variant frequencies exome-wide (r2.1, October 2018)
  • dbSNP - database of short genetic variants (build 154)
  • Cancer Hotspots - a resource for statistically significant mutations in cancer (v2, 2017)

Variant databases of clinical utility

  • ClinVar - database of clinically related variants (September 2024)
  • CIViC - clinical interpretations of variants in cancer (September 18th 2024)

Protein domains/functional features

Cancer gene knowledge bases

Phenotype ontologies