rs569675099

This variant is located in the DENND1A gene.

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GWAS Catalog Trait Associations (1)

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

polycystic ovary syndrome

Burns K et al. “Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry.” Bmc Genomics 25(1):208 (2024)

Allele A

OR 0.85

p 3.0e-9

N 135,004

Meta-analysisLarge GWAS

European

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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