rs646776

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

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GWAS Catalog Trait Associations (106)

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

esterified cholesterol 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 0.15
p 1.0e-219
N 136,016
Large GWAS
multi-ancestry
Li-Gao R et al. “Genetic Studies of Metabolomics Change After a Liquid Meal Illuminate Novel Pathways for Glucose and Lipid Metabolism.” Diabetes 70(12):2932-2946 (2021)
Allele T
OR 0.18
p 2.0e-13
Large GWAS

cholesteryl esters in medium LDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.15
p 3.0e-217
N 136,016
Large GWAS
multi-ancestry

total cholesterol in medium LDL

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.15
p 2.0e-215
N 136,016
Large GWAS
multi-ancestry

total cholesterol in small LDL

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.15
p 1.0e-214
N 136,016
Large GWAS
multi-ancestry

total cholesterol 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 0.15
p 2.0e-212
N 136,016
Large GWAS
multi-ancestry
Li-Gao R et al. “Genetic Studies of Metabolomics Change After a Liquid Meal Illuminate Novel Pathways for Glucose and Lipid Metabolism.” Diabetes 70(12):2932-2946 (2021)
Allele T
OR 0.18
p 3.0e-13
Large GWAS

granulins measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.83
p 8.0e-211
N 3,301
Large GWAS
European
Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele T
OR 0.76
p 1.0e-52
N 997
Small GWAS
multi-ancestry

cholesterol:total lipids ratio, cholesteryl esters:total lipids ratio

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.14
p 1.0e-207
N 136,016
Large GWAS
multi-ancestry

total cholesterol in large LDL

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.14
p 1.0e-206
N 136,016
Large GWAS
multi-ancestry

free cholesterol in large LDL measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.14
p 2.0e-206
N 136,016
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement, lipid measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele T
OR 0.14
p 8.0e-206
N 136,016
Large GWAS
multi-ancestry
Li-Gao R et al. “Genetic Studies of Metabolomics Change After a Liquid Meal Illuminate Novel Pathways for Glucose and Lipid Metabolism.” Diabetes 70(12):2932-2946 (2021)
Allele T
OR 0.17
p 4.0e-13
Large GWAS
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Research that mentions this SNP (1)

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Genetic variability related to serum uric acid concentration and risk of Parkinson's disease
AssociationN=1,815Isabel González‐Aramburu et al.(2013)· Movement Disorders

This study analyzed 9 uric acid-regulating SNPs and 5 progranulin-regulating SNPs in 1,061 Parkinson's disease patients and 754 controls. A cumulative genetic risk score from 8 SNPs (SLC2A9 rs734553, ABCG2 rs2231142, SLC17A1 rs1183201, SLC22A12 rs505802, GCKR rs780094, PDZK1 rs12129861, LRRC16A/SCGN rs742132, SLC16A9 rs12356193) was significantly associated with increased PD risk (OR=1.55, p=0.012). The TMEM106b rs1020004 variant showed association with PD risk (p=0.003), and SORT1 rs646776 was associated with serum progranulin levels and PD-dementia risk.

Traits studied:Parkinson's diseaseParkinson's disease dementiaSerum progranulin levelsSerum uric acid levels
PubMedDOIMetascience Observatory

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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