Invest in ME Conference 12: First Class in Every Way
OverTheHills wraps up our series of articles on this year's 12th Invest in ME International Conference (IIMEC12) in London with some reflections on her experience as a patient attending the conference for the first time.
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Favism(G6PD) What does Promethease indicate? I'm confused.

Discussion in 'Genetic Testing and SNPs' started by swell, Mar 7, 2015.

  1. swell

    swell

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    Promethease
    rs1050828(-;C)
    255 CLNSIG
    0.04293 GMAF
    5 References
    G6PD Gene
    X Chromosome
    154536002 Position
    4 Max Magnitude
    20141103 Rs time
    plus Orientation

    ...less...
    rs1050828 is a SNP residing in the G6PD gene and is located the X chromosome. G6PD codes for the enzyme glucose-6-phosphate dehydrogenase, which helps protect the cell from oxidative damage. Depending on genotype, an individual may possess one of two primary versions of the G6PD gene; type A and type B. Type A is predominantly found in people who have African ancestry. Mutations of G6PD can cause varying degrees of G6PD deficiency, which is a disease affecting red blood cells. For example, an G to A substitution mutation at the rs1050828 (also referred to as G202A) is associated with a reduction of G6PD. The G6PD deficient genotype A- (~8-20% reduction of G6PD) is typically defined by the possession of the rs1050828 A allele (rs1050828(A;A)). In addition, individuals who are type A- almost... ... more info...

    G6PD ASAHI not provided
    rs1050829(-;T)
    255 CLNSIG
    0.08162 GMAF
    3 References
    G6PD Gene
    X Chromosome
    154535277 Position
    2.2 Max Magnitude
    20140616 Rs time
    plus Orientation

    ...more...
    ClinVar
    Malaria
     
  2. Valentijn

    Valentijn Senior Member

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    @swell - You have the normal and very common version of each of those SNPs.
     
  3. swell

    swell

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  4. Valentijn

    Valentijn Senior Member

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    It's always possible - I believe there are specific tests for it. But based on the SNPs you posted above, there's no reason to believe that you have it.
     

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