rs1550117

This is a upstream gene variant variant in the DNMT3A gene.

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GWAS Catalog Trait Associations (2)

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

cutaneous melanoma, hair color

Landi MT et al. “Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.” Nature Genetics 52(5):494-504 (2020)

Allele A

OR —

p 1.0e-8

N 764,610

Large GWAS

European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele A

OR 0.01

p 5.0e-8

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

Tatton-Brown-Rahman overgrowth syndrome

View on ClinVar →

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Research that mentions this SNP (1)

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Genetic factors involved in delayed methotrexate elimination in children with acute lymphoblastic leukemia

AssociationN=87Yu Cheng et al.(2021)· Pediatric Blood & Cancer

This study examined genetic and epigenetic markers associated with chemotherapy-induced oral mucositis in 87 pediatric patients with hematological neoplasms, with 81.9% developing mucositis. Global DNA methylation was significantly reduced in children who recovered from mucositis (18% vs 40% in healthy controls, p<0.05), and the DNMT1 rs2228611 SNP showed association with global methylation levels in cancer patients with mucositis history. miR-9-1 and miR-9-3 methylation patterns were associated with tumor status rather than mucositis.

Traits studied:Acute lymphoblastic leukemiaChemotherapy-induced toxicityHematological neoplasmsOral mucositis

PubMed DOI Metascience Observatory

About DNMT3A

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016]