rs7660883

This variant is located in the AFF1 gene.

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GWAS Catalog Trait Associations (3)

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

metabolic syndrome

Lind L et al. “Genome-Wide Association Study of the Metabolic Syndrome in UK Biobank.” Metabolic Syndrome and Related Disorders 17(10):505-511 (2019)

Allele G

OR 0.04

p 6.0e-11

N 291,107

Major Consortium StudyLarge GWAS

European

brain connectivity attribute

Sha Z et al. “Genetic architecture of the white matter connectome of the human brain.” Science Advances 9(7):eadd2870 (2023)

Allele C

OR 5.73

p 1.0e-8

N 30,810

Large GWAS

European

high density lipoprotein cholesterol measurement

Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)

Allele C

OR 0.05

p 5.0e-8

N 25,169

Large GWAS

East Asian

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]