What an MTHFR AA Genotype Call Means
An AA call at rs1801133 is the same variant as 677TT, reported on the other strand. How to verify it in your own data, and what to measure next.
5 posts
An AA call at rs1801133 is the same variant as 677TT, reported on the other strand. How to verify it in your own data, and what to measure next.
A measurement-first look at the common MTHFR variants: what the genotype does to enzyme activity, how to pull it from your own VCF, and which blood markers carry real signal instead of a symptom list.
A homocysteine test measures total plasma homocysteine, a sensitive readout of B12/folate status, renal function, and methylation flux. Here is how to order it so the number is real, what to run alongside it, and how genotype fits in.
How to pull rs1801133 out of your own VCF without a strand error, what the C677T variant does to the enzyme, and which blood measurements tell you whether it matters for you.
Two very different assays are sold under the name 'methylation panel': a one-carbon biochemistry blood panel and a DNA methylation assay. Here is what each one measures, which files you get, and how to process them yourself.