rs340630

This is a regulatory region variant variant in the AFF1 gene.

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GWAS Catalog Trait Associations (1)

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

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Research that mentions this SNP (1)

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Association of AFF1 rs340630 and AFF3 rs10865035 polymorphisms with systemic lupus erythematosus in a Chinese population
AssociationN=1,843Han Cen et al.(2012)· Immunogenetics

Case-control study examining association of AFF1 rs340630 and AFF3 rs10865035 with systemic lupus erythematosus (SLE) in 868 Chinese patients and 975 healthy controls. AFF3 rs10865035 showed significant association with SLE (A vs G: OR 1.26, 95% CI 1.11-1.44, p=4.81×10⁻⁴), while AFF1 rs340630 showed no significant association. Findings suggest AFF3 is a common susceptibility gene for multiple autoimmune disorders.

Traits studied:Juvenile idiopathic arthritisRheumatoid arthritisSystemic lupus erythematosusType 1 diabetes
PubMedDOIMetascience Observatory

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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