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Help interpreting HLA-Dr Results - Mold.

Discussion in 'Diagnostic Guidelines and Laboratory Testing' started by Ema, Jul 13, 2013.

  1. Hip

    Hip Senior Member

    Many thanks Valentijn. The information overload of that dbSNP page has blown a fuse in my feeble brain,... but very interesting!

    I am a bit confused as to why in the dbSNP page population data table, in the "Genotype Details" columns, there is not only AA, AG and GG, but also A, G and N. Why these single values of A and G? And what does N mean? Don't people always have two versions of the SNP, maternal and paternal?
  2. Valentijn

    Valentijn Activity Level: 3

    Amersfoort, Netherlands
    The AA/AG/GG is for genotype frequency (actual, not calculated) and the A/G/N is for allele frequency.

    The genotype column has A, G, and N in it because some idiot didn't enter the data correctly for one of the groups :p
    Hip likes this.
  3. GypsyGirl


    North Carolina
    Hey Valentijn,

    I had a full round of celiac screening done last year. I did not test positive for any celiac antibodies, however DQ2/DQ A1 & B1 revealed I am positive for DQ8 (2 copies of DQ A1, one copy of B1).

    After receiving/exchanging info from a few other members (to whom I say SO many thank yous), it looks like I am type 4-3-53. (Crap.)

    Thank you guys so much for your input. Having someone to ask these technical (and occasionally scary) questions is a wonderful support.
    Valentijn likes this.

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