rs442177

This variant is located in the AFF1 gene.

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GWAS Catalog Trait Associations (41)

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

triglycerides in medium HDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 2.0e-23
N 136,016
Large GWAS
multi-ancestry

triglycerides in very small VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 5.0e-21
N 136,016
Large GWAS
multi-ancestry

triglyceride measurement, high density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 5.0e-19
N 136,016
Large GWAS
multi-ancestry

triglyceride measurement

Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele G
OR —
β 0.031
p 1.0e-18
N 94,595
Large GWAS
European
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele G
OR 0.03
p 1.0e-18
N 136,016
Large GWAS
multi-ancestry
Bentley AR et al. “Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.” Nature Genetics 51(4):636-648 (2019)
Allele G
OR 0.01
p 4.0e-9
N 111,909
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele G
OR 2.25
p 9.0e-12
N 96,598
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele G
OR —
β 0.033
p 5.0e-15
N 94,674
Large GWAS
multi-ancestry
Waterworth DM et al. “Genetic variants influencing circulating lipid levels and risk of coronary artery disease.” Arteriosclerosis, Thrombosis, and Vascular Biology 30(11):2264-76 (2010)
Allele G
OR 0.02
p 3.0e-10
N 17,723
Large GWAS
multi-ancestry

hemoglobin measurement

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.03
p 1.0e-17
N 172,925
Large GWAS
European

cholesteryl esters in large VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 2.0e-17
N 136,016
Large GWAS
multi-ancestry

phospholipids in VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 2.0e-17
N 136,016
Large GWAS
multi-ancestry

triglycerides in small VLDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 2.0e-17
N 136,016
Large GWAS
multi-ancestry

blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 3.0e-17
N 136,016
Large GWAS
multi-ancestry

esterified cholesterol measurement, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.03
p 4.0e-17
N 136,016
Large GWAS
multi-ancestry

About AFF1

This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

View all AFF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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