rs11557288

This is a coding sequence variant variant in the NRF1 gene.

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GWAS Catalog Trait Associations (1)

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

Red cell distribution width

Pilling LC et al. “Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.” Plos One 12(9):e0185083 (2017)

Allele G

OR 0.02

p 2.0e-8

N 116,666

Large GWAS

European

About NRF1

This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]

View all NRF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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