rs1979276
This variant is located in the SHMT1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (1)
▶The role of ABCB1 polymorphism as a prognostic marker for primary central nervous system lymphomaAssociationN=91Ting Wu et al.(2019)· Annals of Hematology
A prospective study of 91 primary central nervous system lymphoma (PCNSL) patients examined genetic polymorphisms in DNA repair, one-carbon metabolism, and metabolism genes as prognostic markers. ABCB1 rs1045642 was identified as an independent prognostic factor, with the CC genotype significantly associated with shorter progression-free survival (PFS: 16 months CC vs. 27 months TT/CT, HR=1.9, P=0.036) and higher risk of disease progression compared to T allele carriers.
About SHMT1
This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
View all SHMT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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