rs2479106

This is a downstream gene variant variant in the DENND1A gene.

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GWAS Catalog Trait Associations (3)

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

polycystic ovary syndrome

Chen ZJ et al. “Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.” Nature Genetics 43(1):55-9 (2011)
Allele G
OR 1.34
p 8.0e-19
N 1,639
Large GWAS
East Asian
Shi Y et al. “Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.” Nature Genetics 44(9):1020-5 (2012)
Allele G
OR 1.35
p 5.0e-10
N 5,255
Large GWAS
East Asian

non-alcoholic fatty liver disease

Du M et al. “Cross-trait genomic modeling reveals the polygenic architecture and systemic impact of MASLD.” Science Advances 12(7):eaeb5665 (2026)
Allele A
OR 0.03
p 7.0e-11
N 122,644
Large GWAS
European

type 2 diabetes mellitus

Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)
Allele G
OR —
p 2.0e-10
N 2,535,601
Large GWAS
multi-ancestry

About DENND1A

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, 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 DENND1A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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