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Recently got my 23andme test results. Now what??

Discussion in 'Genetic Testing and SNPs' started by Healthy7, Oct 14, 2016.

  1. Healthy7



    I recently got my 23andme test results, and I was wondering if I could get some guidance as to what to do now? I am quite new to all this.

    I got an email recently from 23andme telling me my test results were ready... but when I logged into my account, I just saw a couple of reports they had on me, telling me about my ancestry, if I had lactose intolerance or not, and other things like that.

    I didn't see anywhere any mention about what SNP's I had, if I had an MTHFR genetic mutation, etc.

    I heard that they can also provide you with your "raw data" (I think on what SNP's you have, etc?). Does anyone know where can I access the "raw data" that they provide?

    I read (from people on this site) that you can then send your raw data to some genetic testing websites/services (eg. Ben Lynch's new service called Strategene, as well as several others), that can then come up with helpful genetic analyses for you, based on that raw data. (I guess letting you know what SNP's you have, etc)

    What am I supposed to do now that I have the 23andme test results back? Please help!


    (PS. It would be helpful if perhaps there was a file up on this site to provide this info to newbies)
  2. taniaaust1

    taniaaust1 Senior Member

    Sth Australia
    I cant remember off my head where the raw data exactly is downloaded from the 23andME results without signing in there myself but it is there somewhere and Im sure another will post and tell you. (I remember it took me a bit to find the raw data download link)

    Im posting to give the link for one of the places once you have found it there and downloaded it, you can put it into for free results eg to see if you have the MTHFR mutation etc (for methylation and detox analysis)

    edit.. actually maybe this link will take you right to the 23andME raw data download spot
    Last edited: Oct 14, 2016
    Janice Hargreaves and Jennifer J like this.
  3. Valentijn

    Valentijn Senior Member

    @Healthy7 - You can download your raw data from

    Genetic genie can provide some limited (and often wrong) information regarding methylation.

    I also have a downloadable program at which can be used to find your rare mutations. I recommend downloading "" and "" from and unzipping them into the same folder. The "remarks" file will give gene names and mutation info when applicable, and can be especially useful in conjunction with the "" file, since it produces a lot of results.
  4. ebethc

    ebethc Senior Member

    does it run on a mac?
  5. Valentijn

    Valentijn Senior Member

    Usually. Though it can have problems due to not being a verified program, so settings might need to be changed on the mac.
  6. Janice Hargreaves

    Janice Hargreaves

    I am waiting for my 23andme results due in 6 - 8 weeks. I'm looking forward to getting the raw data too.I had a memory that a while ago Lucinda Bateman was asking for this raw data for her group to study. Does anyone know if they are still doing this? Would Prof Ron Davis at OMF be interested too?
  7. waif

    waif Senior Member

    just got my results!!!!!! is definitely worth the 10$ (i like the way the data is organized)
    i will try the sourceforge links in this thread because i have debilitating unexplained neuropathy all over my body.
  8. waif

    waif Senior Member

    not to hijack the thread but I got analyzemygenes to windows 10 the window IS TINY :)

    now i have to look these up

    rs56367069 1 T 0.010 CT Mutation R294Q (1)
    Clinsig is Benign
    Genes ATP13A2
    rs17508704 1 G 0.010 AG Genes RLF
    rs7525922 1 C 0.010 CT Genes DPYD-AS1/DPYD
    rs17012587 1 G 0.010 GT
    rs2067481 1 A 0.010 AG Mutation V65I (3)
    Genes CHRM3
    rs17863762 2 A 0.010 AG Mutation C277Y (-2)
    Genes UGT1A8
    rs2232346 3 C 0.010 CT Mutation F262L (0)
    Genes IL17RB
    rs11714448 3 G 0.010 AG Genes SLC12A8
    rs2583707 5 C 0.010 CT
    rs17336381 5 T 0.010 CT
    rs17774878 5 A 0.010 AG
    rs11750201 5 G 0.010 AG
    rs34500563 6 A 0.010 AG Genes LOC100506379/TMEM14B
    rs13312995 6 A 0.010 AG Mutation R830W (-3)
    Clinsig is other
    Genes AHI1
    rs17132152 7 A 0.010 AC Genes ABCA13
    rs17132196 7 G 0.010 AG Genes ABCA13
    rs17092911 7 T 0.010 CT Mutation S2154L (-2)
    Genes ABCA13
    rs17132201 7 G 0.010 AG Genes ABCA13
    rs17132206 7 G 0.010 AG Mutation K117R (2)
    Genes ABCA13
    rs17132208 7 G 0.010 GT Mutation S218A (1)
    Genes ABCA13
    rs5956 7 A 0.010 AG Genes CD36
    rs17476298 7 T 0.010 GT Genes CDK14
    rs13222543 7 T 0.010 CT Genes ZCWPW1
    rs8192868 7 A 0.010 AG Mutation E450K (1)
    Genes TBXAS1
    rs41341748 8 A 0.010 AG Mutation R311* (-4)
    Clinsig is Pathogenic
    Genes MSR1
    rs11786893 8 T 0.002 CT Genes GGH
    rs1476275 8 T 0.010 CT Genes LOC101927343/LOC100499183
    rs13290184 9 T 0.010 GT
    rs10978792 9 G 0.010 AG Genes RAD23B
    rs17273828 9 A 0.010 AG Genes MRRF
    rs11596047 10 A 0.010 AG
    rs11101677 10 T 0.010 CT Mutation A809T (0)
    Genes TUBGCP2
    rs17262599 11 G 0.010 AG Genes GVINP1
    rs11608105 11 T 0.010 CT Genes CADM1
    rs1861484 12 G 0.010 GT Genes ETV6
    rs17762729 12 T 0.010 CT Genes DERA
    rs10492249 12 T 0.010 CT Genes SCAF11
    rs3730071 12 A 0.010 AC Mutation A674S (1)
    Genes ADCY6
    rs8192593 12 A 0.010 AG Genes NPFF
    rs9599872 13 T 0.010 CT Genes DACH1
    rs3116578 16 T 0.010 CT Genes IL4R
    rs11646402 16 A 0.010 AG
    rs12930280 16 C 0.010 AC Genes NUTF2
    rs17886060 16 A 0.005 AG Mutation R611Q (1)
    Genes FUK
    rs11643870 16 A 0.005 AG Mutation V138M (1)
    Genes WFDC1
    rs4319810 17 G 0.010 AG Genes METTL16
    rs3887424 17 C 0.010 CT
    rs11663723 18 A 0.010 AG Genes L3MBTL4
    rs3212931 19 T 0.010 GT Genes ERCC1
    rs139740 22 A 0.010 AG Genes SGSM1
    SNP = Single Nucleotide Polymorphism. This is a single allele on a chromosome.
    CHR = Chromosome.
    MA = Minor Allele. The less frequent of the two possible alleles for this SNP.
    MAF = Minor Allele Frequency. This is given in decimal form, not percentage.
    Percentage frequency = MAF x 100
    Heterozygous rate = (1 - MAF) x MAF x 200
    Homozygous minor rate = MAF x MAF x 100
    Homozygous major rate = (1 - MAF) x (1 - MAF) x 100
    GT = Genotype. Two alleles indicate the user's genotype.
    ETC = Information from extra databases used, and flags for homozygous results.
    Genes = the name of the gene(s) which the SNP is on, if any.
    Homozygous = homozygous for the minor allele.
    Renamed = alternative rs numbers for that SNP.
    Mutation = Information for missense mutations and nonsense mutations.
    These result in structural alterations of the protein created by the gene.
    The name of the mutation consists of 1-4 digits between two letters.
    The digits represent the position of the mutation on the created protein.
    The first letter represents the more common amino acid created by that SNP.
    The last letter represents the alternative amino acid created by that SNP.
    The number in parantheses is the BLOSUM62 score, ranging from -4 to 4.
    BLOSUM62 scores the difference between common and alterted amino acids.
    -4 indicates the most extreme difference, and 4 indicates no difference.
    BLOSUM62 scores are not definitive of pathogenic or benign status.
    Example: "Mutation T96I (-1)"
    Threonine (T) is the normal amino acid.
    It is located at position 96 for the protein created by this gene.
    Isoleucine (I) replaces it, which is only moderately different (-1).
    Clinsig = Impact of the allele change, based on the available scientific research
    "Pathogenic" can be disease-causing or just cause a significant change.
    "Benign" is not disease-causing.
    For more general information and research regarding these SNPs, see:
    dbSNP: - SNP data maintained by the NIH.
    OMIM: - Data for human genes and SNP genetic diseases.
    Google Scholar: - Search engine for research articles.

    i feel dumb, i must not be looking up these up the correct way

    on geneticgenie have red for

    VDR Bsm rs1544410 TT
    MTHFR A1298C rs1801131 GG
    MTRR A66G rs1801394 GG

    and yellow for
    COMT V158M rs4680 AG
    COMT H62H rs4633 CT
    MTR A2756G rs1805087 AG
    CBS C699T rs234706 AG
    HMT1 C1420T rs1979277 AG

    a lot of them say not genotyped

    I have two homozygous mutations...... but im reading that mthfr supplements are a scam to push supplements so I feel like I wasted half my day :bang-head:
    Last edited: Feb 2, 2018

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