Variant (rsID / SNP)
rs1801133
rs1801133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTHFR. Location: chromosome 1, position 11,856,378. Clinical significance in the table: drug response.
Reference-table entries
MTHFRDrug response
- Clinical significance (as recorded)
- drug response
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:11856378
- Cytoband
- 1p36.22
- HGVS
- NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
- Allele change
- Missense_A222V
Associated conditions / phenotypes
MTHFR THERMOLABILE POLYMORPHISM|Gastrointestinal stromal tumor|Neural tube defects, folate-sensitive|Neoplasm of stomach|Thrombophilia due to thrombin defect|Homocystinuria due to methylene tetrahydrofolate reductase deficiency|Homocystinuria due to MTHFR deficiency|methotrexate response - Metabolism/PK|Stroke|methotrexate response - Toxicity
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.