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SNP rsID Minor Allele RefSNP Alleles
CLCN6   rs13306561 G C/T
CLCN6   rs3753583 A C/T
CLCN6   rs3753584 C A/G
LOC100506310   rs1057624 C A/G
LOC100506310   rs12023469 T C/T
LOC100506310   rs1537515 A G/T
LOC100506310   rs1537516 A C/T
LOC100506310   rs2077360 A A/G
LOC100506310   rs2184226 C A/G
LOC100506310   rs2184227 T A/G
LOC100506310   rs34733339 C A/G
LOC100506310   rs3737966 C A/G
LOC100506310   rs3737967 A C/T
LOC100506310   rs4845884 G A/G
LOC100506310   rs868014 A C/T
MTHFR   rs12121543 A A/C
MTHFR   rs13306556 T A/G
MTHFR   rs1413355 C A/G
MTHFR   rs1476413 T A/G
MTHFR   rs1572151 C A/G
MTHFR   rs17037390 A A/G
MTHFR   rs17037396 T C/T
MTHFR   rs17037397 A A/C
MTHFR   rs17037404 A A/G
MTHFR   rs17375901 T C/T
MTHFR   rs17421462 A A/G
MTHFR   rs1994798 G C/T
MTHFR   rs2066464 C A/G
MTHFR   rs2066466 T A/G
MTHFR   rs34279942 A A/G
MTHFR   rs34889587 A C/T
MTHFR   rs35737219 A A/G
MTHFR   rs4846049 T G/T
MTHFR   rs4846051 G A/G
MTHFR   rs4846052 T C/T
MTHFR   rs6541003 G A/G
MTHFR   rs7518348 A A/G
MTHFR   rs7553194 A A/G
MTHFR   rs9651118 C C/T
MTHFR (LOC100506310)   rs4846048 G A/G
MTHFR 03 P39P   rs2066470 A C/T
MTHFR A1298C   rs1801131 G A/C
MTHFR A1572G   rs17367504 G A/G
MTHFR C677T   rs1801133 A C/T
MTHFR G1793A (R594Q)   rs2274976 T A/G
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What is the official name of the MTHFR gene?

The official name of this gene is “methylenetetrahydrofolate reductase (NAD(P)H).”
MTHFR is the gene's official symbol. The MTHFR gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.

What is the normal function of the MTHFR gene?

The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the B-vitamin folate (also ... More

Genome Wide Studies
  • Study on rs17375901 - Atrial fibrillation.  Increased Risk in people with TT genotype ( Odds Ratio: 1.26 ).

    Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.

    Population: 2,145 cases, 4,073 controls ( Replicated in another study with 2,145 cases, 4,073 controls )

    Pubmed reference: 19597492

  • Study on rs17367504 - Blood pressure.  Reduced Risk in people with GG genotype ( Odds Ratio: 0.53 ).

    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

    Population: 48,607 European ancestry individuals ( Replicated in another study with 48,607 European ancestry individuals )

    Pubmed reference: 21909110

  • Study on rs1801133 - Homocysteine levels.  Reduced Risk in people with AA genotype ( Odds Ratio: 0.16 ).

    Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.

    Population: None )

    Pubmed reference: 23824729