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URL: http://www.snp-nexus.org/
Proper Citation: SNPnexus (RRID:SCR_005192)
Description: A web server for functional annotation of novel and publicly known genetic variants that was developed to assess the potential significance of known and novel SNPs on the major transcriptome, proteome, regulatory and structural variation models in order to identify the phenotypically important variants. A broader range of variations have been incorporated such as insertions / deletions, block substitutions, IUPAC codes submission and region-based analysis, expanding the query size limit, and most importantly including additional categories for the assessment of functional impact. SNPnexus provides a comprehensive set of annotations for genomic variation data by characterizing related functional consequences at the transcriptome/proteome levels of seven major annotation systems with in-depth analysis of potential deleterious effects, inferring physical and cytogenetic mapping, reporting information on HapMap genotype/allele data, finding overlaps with potential regulatory elements, structural variations and conserved elements, and retrieving links with previously reported genetic disease studies.
Abbreviations: SNPnexus
Resource Type: service resource, analysis service resource, production service resource, data analysis service
Defining Citation: PMID:23395730, PMID:22544707, PMID:19098027
Keywords: single nucleotide polymorphism, genetic variant, gene, variant, insertion, deletion, block substitution, functional annotation, genotyping, phenotype, disease, regulatory element, conservation, non-synonymous coding snp, gene, protein, hapmap, population, structural variation
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