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Do I have an MTHFR mutation? Here’s how to find out

Of all the genes in the world of nutrigenomics, MTHFR is probably the best known. And with a whole range of diseases being blamed on MTHFR “mutations,” people are anxious to see their status.

First, a caveat – many of the conversations surrounding MTHFR are speculative at best. Getting genetic data and hyper focusing on any one SNP or “mutation” is probably not a good idea if you enjoy keeping stress levels low.

If you want a clear picture of where we think things stand with MTHFR research, have a listen to the podcast episode we did recently on the latest science on MTHFR.

But this isn’t a blog on the conditions linked to MTHFR, it’s a blog about how to find your MTHFR status.

Happily, this is a task that has gotten a lot easier as of late, but you will have had to have done some basic testing first. If you have a 23andme account, you can login and see your MTHFR status in a few simple steps.

MTHFR for 23andme users

Step #1 – login and select “browse raw data”

23andme has made it much easier to navigate to your raw data file from the dashboard of a logged in account.

Find out MTHFR

Step #2 – search MTHFR

Once you arrive at the raw data screen, you cam search genes by name and see your call for the various SNPs they report on. There are many different MTHFR genes, although we will focus on a couple that are thought to be most clinically relevant. As you can see from the screen below, I typed in MTHFR directly into the 23andme search bar.

MTHFR in 23andme interface

Step #3 – find the right version of the MTHFR gene

Once you arrive at the raw data search field for 23andme, you simply scroll down the page and find the relevant version of MTHFR. You will see numerous results with your status for each under the “Your Genotype” column.

searching 23andme for MTHFR genes

The most researched MTHFR variants are MTHFR C677T (rs1801133) and MTHFR A1298C (rs1801131). First, stop and notice how similar the rsID numbers are for these genes! Next, scroll the “Marker / SNP” column and find these variants.

Minor allele for A1298C is – C or G.

Minor allele for C677T is – T or A.

If 23andme shows one copy of the minor allele that represents a “heterozygous” mutation. If two copies, that is a homozygous mutation. Here you can see Here, you can see my call for MTHFR C677T is G/G, meaning I do not carry a risk allele.


Other options

Sites like Genetic Genie will give a full report on methylation genes (including MTHFR) if you download the raw data from 23andme and upload to that platform.

We also have a blog post on our site detailing the various sites that process 23andme raw data.

MTHFR is also one of the genes we report on in our custom nutrition plans.

John O'Connor

John O'Connor is the founder of Gene Food, host of the Gene Food Podcast and a health coach trained at Duke's Integrative Medicine Program. Read his full bio here.

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