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  • Deleterious information in dbSNP

    Hello everyone,
    How could I obtain the SNPs which are deleterious in the dbSNP?

    Is the recent versions of dbSNP containing the deleterious information if the SNP sites is deleterious?


    Thanks a lot!

  • #2
    ftp://[email protected]

    SNPs with alternate allele shorter than the reference allele are deletions

    Comment


    • #3
      Originally posted by ymc View Post
      ftp://[email protected]

      SNPs with alternate allele shorter than the reference allele are deletions
      thanks for you reply~

      my purpose is to obtain the deleterious snp sits.

      Any body knows ?


      Many thanks~

      Comment


      • #4
        Originally posted by genelab View Post
        thanks for you reply~

        my purpose is to obtain the deleterious snp sits.

        Any body knows ?


        Many thanks~
        snp position is also in the vcf file

        Comment


        • #5
          Based on my understanding of your question, do this:

          Go to: http://www.ncbi.nlm.nih.gov/snp/limits

          Choose organism and then under annotation, check "clinical/lsdb submissions" and also choose "pathogenic" and "probably pathogenic". Hit Search.

          You can download it in a format you want using "display settings" on left top.

          Comment

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