rs660240

This is a regulatory region variant variant in the CELSR2 gene.

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GWAS Catalog Trait Associations (32)

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

sphingomyelin measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.09
p 2.0e-77
N 126,671
Large GWAS
multi-ancestry

non-high density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.16
p 6.0e-77
N 40,963
Large GWAS
South Asian

triglycerides in large LDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.08
p 8.0e-70
N 136,016
Large GWAS
multi-ancestry

triglyceride measurement, low density lipoprotein cholesterol measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.08
p 1.0e-67
N 136,016
Large GWAS
multi-ancestry

triglycerides in IDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.07
p 8.0e-56
N 136,016
Large GWAS
multi-ancestry

progranulin measurement

Tönjes A et al. “Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin.” Human Molecular Genetics 27(3):546-558 (2018)
Allele C
OR 0.17
p 6.0e-50
N 2,811
Meta-analysis
European

vitamin K-dependent protein C measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.07
p 2.0e-38
N 47,745
Large GWAS
European

docosahexaenoic acid measurement

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 1.0e-28
N 239,268
Large GWAS
European
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele T
OR 0.04
p 2.0e-19
N 115,006
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele T
OR 0.04
p 2.0e-16
N 88,268
Large GWAS
European

About CELSR2

The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]

View all CELSR2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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