VariED

Variants search

  • This function is for users to query the gene expression profiles, allele frequency/count, functional predict scores and clinical interpretation according to their chromosomal coordinates of variants or Variant Call Format (vcf).
  • Currently, Variants search only supports GRCh37/hg19.
  • Input example:
    chr1:69224A>T
    chr2:41620T>G
    • Step 1: Input data

    OR
    Step 2: Select output information
    Output format
    Population Select All
    1000genomes
    1000Genomes_EAS
    Integrative Japanese Genome Variation Database
    NHLBI Exome Sequencing Project(ESP)
    Taiwan Biobank
    The Exome Aggregation Consortium (ExAC)
    gnomAD
    gnomAD exome collection
    ALL African/African American Latino Ashkenazi Jewish East Asian Finnish Non-Finnish European South Asian Other
    gnomAD genome collection
    ALL African/African American Latino Ashkenazi Jewish East Asian Finnish Non-Finnish European Other
    gene expression profiles TPM Rank

    Please select a specific tissue for buliding Index!

    please select the tissue you want

    Functional prediction
    CADD scores PolyPhen2
    Polyphen2 HDIV score Polyphen2 HDIV pred Polyphen2 HVAR score Polyphen2 HVAR pred
    Clinical interpretation
    ClinVar
    dbSNP
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