rs3814883

This variant is located in the TAOK2 gene.

GWAS Catalog Trait Associations (41)

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

body weight

Allele T
OR 0.03
p 2.0e-55
N 394,642
Large GWAS
European

body mass index

Huang J et al. Genomics and phenomics of body mass index reveals a complex disease network. Nature Communications 13(1):7973 (2022)
Allele C
OR 0.02
p 5.0e-50
N 1,122,049
Large GWAS
European
Koskeridis F et al. Pleiotropic genetic architecture and novel loci for C-reactive protein levels. Nature Communications 13(1):6939 (2022)
Allele C
OR 0.02
p 2.0e-38
N 694,649
Large GWAS
European
Allele C
OR 0.02
p 2.0e-37
N 394,642
Large GWAS
European

lean body mass

Harris BHL et al. New role of fat-free mass in cancer risk linked with genetic predisposition. Scientific Reports 14(1):7270 (2024)
Allele T
OR 0.02
p 1.0e-44
N 337,739
Large GWAS
European

waist circumference

Allele T
OR 0.02
p 1.0e-43
N 394,642
Large GWAS
European

osteoarthritis, knee, body mass index

Allele T
OR
p 1.0e-40
N 1,202,888
Large GWAS
European

hip circumference

Allele T
OR 0.02
p 2.0e-38
N 394,642
Large GWAS
European

fat pad mass

Allele T
OR 0.02
p 3.0e-30
N 394,642
Large GWAS
European
Harris BHL et al. New role of fat-free mass in cancer risk linked with genetic predisposition. Scientific Reports 14(1):7270 (2024)
Allele T
OR 0.02
p 6.0e-24
N 337,196
Large GWAS
European

body height

Allele C
OR 0.01
p 8.0e-27
N 453,169
Large GWAS
European

saturated fatty acids to total fatty acids percentage

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 2.0e-18
N 450,015
Large GWAS
multi-ancestry

triglycerides to total lipids in small HDL percentage

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 6.0e-17
N 450,015
Large GWAS
multi-ancestry

ClinVar annotation

Benign★★★
3 submitters2 publications

not provided; TAOK2-related disorder

View on ClinVar →

About TAOK2

Enables mitogen-activated protein kinase kinase binding activity; neuropilin binding activity; and protein serine/threonine kinase activity. Involved in several processes, including focal adhesion assembly; intracellular signal transduction; and positive regulation of MAPK cascade. Located in cytoplasmic vesicle; cytosol; and nuclear lumen. Part of receptor complex. [provided by Alliance of Genome Resources, Jul 2025]

View all TAOK2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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