rs147145199

This is a intron variant variant in the ARFGEF2 gene.

GWAS Catalog Trait Associations (1)

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

age of onset of Alzheimer disease

Li YJ et al. Identification of novel genes for age-at-onset of Alzheimer's disease by combining quantitative and survival trait analyses. Alzheimer's & Dementia : the Journal of the Alzheimer's Association 19(7):3148-3157 (2023)
Allele T
OR 1.06
p 1.0e-8
N 19,564
Large GWAS
European

About ARFGEF2

ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]

View all ARFGEF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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