uncoverapp_annotation_data
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资源简介：
Variant annotation databases for the identification of genomic coordinates (chromosome, start, end, REF, ALT), identifiers (dbSNP), gene information (GENENAME, PROTEIN_ensembl), pathogenicity predictors (MutationAssessor, SIFT, Polyphen2, M-CAP, CADD), population frequencies (gnomAD), clinical significance (ClinVar, OMIM, MedGen), and HGVS nomenclature.
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Zenodo创建时间：
2025-11-04
