rs12131588

This is a intron variant variant in the DENND1B gene.

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GWAS Catalog Trait Associations (3)

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

lymphocyte percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 3.0e-15
N 408,112
Large GWAS
European

neutrophil percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 3.0e-10
N 408,112
Large GWAS
European

narcolepsy-cataplexy syndrome

Ollila HM et al. “Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy.” Nature Communications 14(1):2709 (2023)
Allele A
OR 0.17
p 1.0e-9
N 90,929
Large GWAS
multi-ancestry

About DENND1B

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

View all DENND1B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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