rs114503346

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GWAS Catalog Trait Associations (4)

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

atopic eczema

Budu-Aggrey A et al. “European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.” Nature Communications 14(1):6172 (2023)
Allele T
OR 0.94
p 3.0e-17
N 864,982
Meta-analysisLarge GWAS
European

cup-to-disc ratio measurement

Craig JE et al. “Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.” Nature Genetics 52(2):160-166 (2020)
Allele C
OR —
β 0.020
p 4.0e-14
N 90,939
Large GWAS
European
Springelkamp H et al. “New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.” Human Molecular Genetics 26(2):438-453 (2017)
Allele C
OR 0.02
p 5.0e-9
N 23,899
Large GWAS
multi-ancestry

diastolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele T
OR 0.25
p 2.0e-11
N 1,028,980
Large GWAS
multi-ancestry
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele T
OR 0.02
p 3.0e-9
N 1,212,859
Large GWAS
European
Evangelou E et al. “Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.” Nature Genetics 50(10):1412-1425 (2018)
Allele T
OR 0.27
p 3.0e-10
N 757,601
Large GWAS
European

Eczematoid dermatitis

Grosche S et al. “Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.” Nature Communications 12(1):6618 (2021)
Allele T
OR 0.84
p 3.0e-10
N 400,449
Large GWAS
European

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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