rs1801131
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
- Homocystinuria due to methylene tetrahydrofolate reductase deficiencyBenign · ★★ · germline
- Neural tube defects, folate-sensitive (NTDFS)Benign · ★ · germline
- Schizophrenia (SCZD)Benign · ★ · germline
- Thrombophilia due to thrombin defect (THPH1)Benign · ★ · germline
- Neural tube defects, folate-sensitive (NTDFS)Benign · ★ · unknown
- Schizophrenia, susceptibility toRisk factor · germline
- MTHFR-related disorderBenign · germline
- MTHFR THERMOLABILE POLYMORPHISMBenign · germline
- Gastrointestinal stromal tumorno classifications from unflagged record · germline
- not providedBenign · ★★ · germline
- not specifiedLikely benign · ★ · germline
gnomAD allele frequency 2.60e-1
rs1801131 is a genetic variant located in the MTHFR gene. dbsnp · gene
In gnomAD, rs1801131 has an overall allele frequency of 26.0%. gnomad · frequency
In ClinVar, rs1801131 is classified as Benign for Homocystinuria due to methylene tetrahydrofolate reductase deficiency (2 review stars, germline; last evaluated 2025-02-03). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1801131 is classified as Benign for Neural tube defects, folate-sensitive (NTDFS) (1 review star, germline; last evaluated 2023-04-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1801131 is classified as Benign for Schizophrenia (SCZD) (1 review star, germline; last evaluated 2023-04-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1801131 is classified as Benign for Thrombophilia due to thrombin defect (THPH1) (1 review star, germline; last evaluated 2023-04-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1801131 is classified as Benign for Neural tube defects, folate-sensitive (NTDFS) (1 review star; last evaluated 2019-05-28). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1801131 is classified as Risk factor for Schizophrenia, susceptibility to (0 review stars, germline; last evaluated 2008-07-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1801131 is classified as Benign for MTHFR-related disorder (0 review stars, germline; last evaluated 2023-12-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1801131 is classified as Benign for MTHFR THERMOLABILE POLYMORPHISM (0 review stars, germline; last evaluated 2008-07-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1801131 is classified as no classifications from unflagged record for Gastrointestinal stromal tumor (0 review stars, germline; last evaluated 2023-10-30). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1801131 is classified as Benign for not provided (2 review stars, germline; last evaluated 2024-11-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1801131 is classified as Likely benign for not specified (1 review star, germline; last evaluated 2023-09-07). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 813797c79a135701 · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0
Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.