rs9651118

This is a upstream gene variant variant in the MTHFR gene.

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Red cell distribution width

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR —
p 7.0e-21
N 563,352
Large GWAS
multi-ancestry

Moyamoya disease

Duan L et al. “Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.” Stroke 49(1):11-18 (2018)
Allele A
OR 1.54
p 2.0e-19
N 2,786
Large GWAS
East Asian
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Research that mentions this SNP (2)

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Association of the STAT4 gene with increased susceptibility for some immune‐mediated diseases
AssociationN=318Martínez A. et al.(2008)· Arthritis &amp; Rheumatism

This pharmacogenetic study examined genetic variants in the folate metabolism and MTX transport pathways in rheumatoid arthritis patients receiving methotrexate monotherapy. Study 1 (n=124) identified rs17421511 and rs1476413 in MTHFR and rs1643650 in DHFR as significantly associated with MTX treatment response (p=0.024, p=0.0086, p=0.026 respectively), and rs16853826 and rs10197559 in ATIC as associated with toxicity (p=0.039). Study 2 (n=194) found rs10106 and rs10987742 in FPGS associated with response, and rs868755, rs10280623, rs1858923 in ABCB1 associated with toxicity, with rs10106 also associated with longer MTX monotherapy survival.

Traits studied:MTX monotherapy survivalMethotrexate responseMethotrexate toxicityRheumatoid arthritis
PubMedDOIMetascience Observatory
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Replication of the tumor necrosis factor receptor−associated factor 1/complement component 5 region as a susceptibility locus for rheumatoid arthritis in a European family‐based study
AssociationN=318Kurreeman FA et al.(2008)· Arthritis &amp; Rheumatism

This pharmacogenetics study analyzed 28 SNPs in methotrexate (MTX) metabolism genes (SLC19A1/RFC1, ABCB1, FPGS, GGH) in two Spanish populations with rheumatoid arthritis (n=124 and n=194). Key findings: FPGS rs10987742 and rs10106 associated with MTX response (p=0.033, p=0.041); FPGS rs10106 also associated with MTX survival (p=0.005) and toxicity (p=0.021); ABCB1 rs868755, rs10280623, rs1858923 associated with toxicity (p=0.025, p=0.048, p=0.031). In the first study, MTHFR rs17421511 (p=0.024) and rs1476413 (p=0.0086) associated with response, DHFR rs1643650 (p=0.026) associated with response, ATIC rs16853826 associated with toxicity (p=0.039).

Traits studied:Methotrexate responseMethotrexate survivalMethotrexate toxicityRheumatoid arthritis
PubMedDOIMetascience Observatory

About MTHFR

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]

View all MTHFR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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