RS1801133 MTHFR
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What This Variant Does
"rs1801133 is a SNP that is relatively common and has been studied for (relatively) a long time. Also...
Associated Conditions
MTHFR THERMOLABILE POLYMORPHISM
Gastrointestinal stromal tumor
Neural tube defects
folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
methotrexate response - Toxicity
Thrombophilia due to thrombin defect
See cases
MTHFR THERMOLABILE POLYMORPHISM
Gastrointestinal stromal tumor
Neural tube defects
folate-sensitive
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
methotrexate response - Toxicity
Thrombophilia due to thrombin defect
Related Biomarkers
Folate
monitor
strong
Vitamin B12
supports interpretation
moderate
Related Supplements
Methylfolate (5-MTHF) may support
strong
MTHFR C677T — methylfolate bypasses reduced enzyme activity
Vitamin B12 (methylcobalamin) may support
moderate
MTHFR C677T — supports methylation cycle
Riboflavin (B2) may support
moderate
MTHFR C677T — riboflavin stabilises the MTHFR enzyme
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Homocysteine levels | T | OR: 0.45 | 1E-120 | PubMed |
| Homocysteine levels | A | OR: 0.16 | 4E-104 | PubMed |
| Homocysteine levels | A | OR: 0.26 | 6E-69 | PubMed |
| Serum folate levels | G | — | 1E-52 | PubMed |
| X-24337 levels | A | OR: 0.3 | 9E-43 | PubMed |
| Glycine levels | A | β: 0.03 | 1E-41 | PubMed |
| mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed) | G | β: 0.037 | 3E-38 | PubMed |
| Folate levels | A | OR: 0.17 | 8E-38 | PubMed |
| Homocysteine levels | A | β: 0.05 | 8E-35 | PubMed |
| mean corpuscular hemoglobin (MCH, mean, inv-norm transformed) | G | β: 0.035 | 2E-34 | PubMed |
| X-24337 levels | A | OR: 0.19 | 7E-32 | PubMed |
| mean corpuscular volume (MCV, maximum, inv-norm transformed) | G | β: 0.033 | 3E-31 | PubMed |
| mean corpuscular volume (MCV, mean, inv-norm transformed) | G | β: 0.032 | 2E-30 | PubMed |
| Mean reticulocyte volume (UKB data field 30260) | A | β: 0.023 | 5E-30 | PubMed |
| mean corpuscular hemoglobin (MCH, minimum, inv-norm transformed) | G | β: 0.03 | 1E-24 | PubMed |
| mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed) | G | β: 0.035 | 4E-24 | PubMed |
| Diastolic blood pressure (MTAG) | A | β: 0.018 | 7E-24 | PubMed |
| Red cell distribution width | — | — | 1E-23 | PubMed |
| mean corpuscular volume (MCV, minimum, inv-norm transformed) | G | β: 0.027 | 7E-22 | PubMed |
| mean corpuscular hemoglobin (MCH, mean, inv-norm transformed) | G | β: 0.033 | 1E-21 | PubMed |
ClinVar Assertions (1)
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
Population Frequencies
gnomAD ALL
32.3%
1kG AFR
9%
1kG ALL
24.5%
1kG AMR
47.4%
1kG EAS
70.4%
1kG EUR
63.5%
1kG SAS
11.9%
Other Variants in MTHFR