Sequencings

Markers / MTHFR

rs1801131

MTHFR A1298C

GeneMTHFR
Positionchr1:11,854,476
VersionsT / G
Evidenceestablished

What this position does

The second common MTHFR variant, usually reported alongside C677T. It reduces enzyme activity less than C677T does.

What each result means

If you carryWhat it means
No copies of the effect version
TT
You do not carry A1298C
Two copies of the higher-activity version.
One copy
GT
You carry one copy, which changes nothing in practice
Very common and of no established consequence on its own.
Two copies
GG
You carry two copies, which still changes very little
Mildly reduced enzyme activity. As with C677T, the large clinical claims made for this variant are not supported by the evidence, and major genetics bodies advise against testing for it.

How common each version is

Ancestry groupG (the effect version)
African15.1%
American15.1%
East Asian21.9%
European31.3%
South Asian41.7%

1000 Genomes Project phase 3, via Ensembl, retrieved 2026-09-23. These groupings are coarse and flatten a great deal of internal diversity, particularly within Africa. A variant being common somewhere tells you where a piece of your ancestry probably comes from, and nothing else.

How many people carry each result

Ancestry groupTTGTGG
African478 / 661166 / 66117 / 661
European239 / 503213 / 50351 / 503
East Asian302 / 504183 / 50419 / 504
South Asian166 / 489238 / 48985 / 489
American250 / 34789 / 3478 / 347

Counts of people, not modelled frequencies: every one of the 2,504 individuals sequenced by the 1000 Genomes Project phase 3, tallied by the genotype they carry. Deriving these from allele frequencies instead would assume random mating inside each group and undercount the homozygotes.

How to find out which you have

If you have taken a test with 23andMe, AncestryDNA, MyHeritage, Family Tree DNA, TellMeGen or Living DNA, this position is very likely already in the raw data file they gave you. You do not need another test.

One thing to watch if you look it up by hand: testing companies report some positions from one DNA strand and some from the other, and the file does not say which. Read the letters as they appear and you will get the opposite of the truth for some positions. Sequencings resolves that automatically.

Source

Hickey et al., ACMG practice guideline: lack of evidence for MTHFR polymorphism testing, Genetics in Medicine (2013)

Coordinates and allele pair verified against Ensembl GRCh37. Direction of effect verified against VEP protein consequences or 1000 Genomes population frequency. Category: Health-adjacent.

Related

All markers in MTHFR

Where this fits

Common questions

What is rs1801131?

rs1801131 is a position in the MTHFR gene on chromosome 1. The second common MTHFR variant, usually reported alongside C677T. It reduces enzyme activity less than C677T does.

What does it mean if I have GG at rs1801131?

You carry two copies, which still changes very little. Mildly reduced enzyme activity. As with C677T, the large clinical claims made for this variant are not supported by the evidence, and major genetics bodies advise against testing for it.

What does it mean if I have TT at rs1801131?

You do not carry A1298C. Two copies of the higher-activity version.

How do I find out my rs1801131 genotype?

If you have taken a home DNA test, this position is very likely in the raw data file you were given. Sequencings reads that file in your browser without uploading it, and resolves which DNA strand each position was reported from, which is the step most manual lookups get wrong.

This is reference information, not medical advice, and not a diagnosis. See the medical disclaimer. Category: Health-adjacent.