rs4970834

This is a intron variant variant in the CELSR2 gene.

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GWAS Catalog Trait Associations (6)

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

total blood protein measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.02
p 6.0e-16
N 394,642
Large GWAS
European

Thyroid stimulating hormone level

Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele T
OR 0.02
p 2.0e-13
N 482,873
Large GWAS
European

Agents acting on the renin-angiotensin system use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele T
OR 0.06
p 5.0e-13
N 237,530
Major Consortium StudyLarge GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.05
p 2.0e-11
N 416,256
Large GWAS
multi-ancestry

Beta blocking agent use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.07
p 2.0e-11
N 402,750
Large GWAS
multi-ancestry
Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele T
OR 0.06
p 8.0e-9
N 224,024
Major Consortium StudyLarge GWAS
European

venous thromboembolism

Thibord F et al. “Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.” Circulation 146(16):1225-1242 (2022)
Allele T
OR 0.05
p 7.0e-10
N 1,066,917
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters2 publications
View on ClinVar →
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Research that mentions this SNP (1)

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The impact of newly identified loci on coronary heart disease, stroke and total mortality in the MORGAM prospective cohorts
AssociationN=33,282Juha Karvanen et al.(2009)· Genetic Epidemiology

Prospective cohort study of 33,282 individuals from the MORGAM Project investigating SNPs from recent GWAS in relation to incident coronary heart disease (CHD), stroke, and total mortality. SNP rs1333049 (9p21.3) was associated with both CHD (HR=1.20, 95% CI 1.08-1.34) and stroke, rs11670734 (19q12) with total mortality and stroke, and several SNPs associated with lipid levels and blood pressure.

Traits studied:Blood pressureCoronary heart diseaseHDL cholesterolMyocardial infarctionNon-HDL cholesterolStrokeTotal mortality
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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