rs611917

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

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GWAS Catalog Trait Associations (2)

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

low density lipoprotein cholesterol measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.11
p 9.9e-324
N 578,944
Major Consortium StudyLarge GWAS
multi-ancestry
Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele A
OR 0.11
p 1.0e-300
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry
Huang S et al. “The Born in Guangzhou Cohort Study enables generational genetic discoveries.” Nature 626(7999):565-573 (2024)
Allele A
OR —
β 0.598
p 2.0e-14
N 1,532
Large GWAS
East Asian

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 G
OR 0.16
p 8.0e-67
N 146,492
Large GWAS
East Asian
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ClinVar annotation

Benign★★★☆
3 submitters2 publications

CELSR2-related disorder

View on ClinVar →

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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