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rs1801131(A;C)

From SNPedia

Possibly impaired folate metabolism
Is agenotype
ofrs1801131
GeneMTHFR
Chromosome1
Position11,794,419
mentionedby
Magnitude2.1
ReputeBad
Geno Mag Summary
(A;A) 0
(A;C) 2.1 Possibly impaired folate metabolism
(C;C) 2.5 Number of risks. Complex.

MTHFR rs1801131 (C) or MTHFR A1298C is a mutation in the folate pathway, specifically in the enzyme involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). Defects in folate metabolism can increase the risk of neural tube defects and possibly contribute to risk of stroke / heart attack.

Unlike rs1801133 or MTHFR C677T, this mutation does not lead to elevated homocysteine levels, however some studies have suggested that there may be a synergistic effect in individuals heterozygous for both mutations. [PMID 9719624]