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  • ngarg
    Junior Member
    • Sep 2009
    • 2

    #1

    Question on Minor allele Frequency in dbSNP135

    hi All,

    I am looking at dbSNP135 data and I have a question. In cases where dbsnp records have GMAF(Global Minor Allele Frequency), G5 and G5A values reported, it is safe to assume that the alternate/observed allele is always the minor allele? The allele frequencies reported in dbsnp135 use the 1000G phase 1 population

    It is slighly confusing as there are some examples on the web where reference allele is a minor allele and used for reporting minor allele frequency
    Example can be found at this link:
    [URL="http://biostar.stackexchange.com/questions/15272/list-of-dbsnp-variants-where-reference-genome-has-minor-allele"]

    I have searched the dbsnp website, but there is no explicit info on if "ref/alt" is the minor allele

    Thanks,
    Nriti

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