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  • How to get Risk Allele from ClinVar?

    Given a ClinVar Pathogenic SNP
    rs35269064 (NM_000050.4(ASS1):c.[323G>T];[970+5G>A] – Compound heterozygote).

    Link: https://www.ncbi.nlm.nih.gov/clinvar/variation/424822/

    How do I identify the risk allele of this rsID?

    Thank you in advance.

  • #2
    Hello juhuvn,

    what do you mean by "risk allele".

    fin swimmer

    Comment


    • #3
      Originally posted by finswimmer View Post
      Hello juhuvn,

      what do you mean by "risk allele".

      fin swimmer
      Dear fin,

      risk allele is the allele associated with a particular disease.

      for example: rs35269064 G>T. if someone hold this T allele, he/she might be at risk of a disease.

      Comment


      • #4
        So you want to identify what base change is associated with the rs number?

        Do you have a list of these identifiers, a vcf file, ...? How does your input look like?

        Do you want a programmatically solution? How should your output look like?

        fin swimmer

        Comment

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