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  • Identifying human disease SNPs

    Does anyone know how to check sequenced nucleotide variants against known disease variants?

    In HGMD the variant coordinates are by codon position with the cDNA. Is there a way to map this information to genomic coordinates? Is there a more useful database out there?

  • #2
    I am looking for the same answer as well.
    I am currently thinking or looking for dbs that link OMIM with dbSNP.. have you found any other answers?
    http://kevin-gattaca.blogspot.com/

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