Current Version: v5.0 (January 1, 2025) README
Fully rebuilt based on Gencode 46/Ensembl 112
Transcripts annotations from the MANE project has been added.
Allele frequencies from TOPMed freeze8, and gnomAD exome controls, non-neuro, and non-cancer subsets from v2.1.1 have been added.
Allele frequencies from gnomAD have been updated to v4.1 joint data set (genome+exome).
bStatistic, ancestral alleles, and ClinVar have been updated.
MutationTaster has been updated to MutationTaster2021.
The gene table has also been rebuilt. ClinGen Dosage Sensitivity and Humnan Protein Atlas consensus gene expression levels have been added.
HGNC, Uniprot, IntAct, GWAS catalog, Interpro, Gene Ontology, ConsensusPathDB, HPO, mouse homolog genes, zebrafish homolog genes, HPO, OMIM, Orphanet have been updated.
The egenetics and GNF/Atlas expression, gene interactions and SORVA statistic have been retired.
LRT, FATHMM, fathmm-MKL, fitCons, LINSIGHT, GenoCanyon, EVE, Siphy scores, allele frequencies from ESP, ExAC, UK10K, and GTEx, eQTLGen and Geuvadis eQTLs have been retired.
To view the history of past versions of dbNSFP, please visit our previous dbNSFP website here.