rs117137535

This is a regulatory region variant variant in the ARRDC1 gene.

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GWAS Catalog Trait Associations (4)

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

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 A
OR 1.35
p 6.0e-11
N 400,449
Large GWAS
European

asthma

Han Y et al. “Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma.” Nature Communications 11(1):1776 (2020)
Allele A
OR 1.13
p 4.0e-9
N 303,859
Large GWAS
European
Pividori M et al. “Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.” The Lancet. Respiratory Medicine 7(6):509-522 (2019)
Allele A
OR 2.46
p 3.0e-8
N 37,846
Large GWAS
European

childhood onset asthma

Pividori M et al. “Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.” The Lancet. Respiratory Medicine 7(6):509-522 (2019)
Allele A
OR 1.31
p 4.0e-9
N 327,670
Large GWAS
European

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 A
OR —
p 2.0e-8
N 1,086,394
Meta-analysisLarge GWAS
multi-ancestry
Pasanen A et al. “Identifying Atopic Dermatitis Risk Loci in 1,094,060 Individuals with Subanalysis of Disease Severity and Onset.” The Journal of Investigative Dermatology 144(11):2417-2425 (2024)
Allele A
OR 0.13
p 5.0e-8
N 1,094,060
Large GWAS
multi-ancestry

About ARRDC1

Enables several functions, including arrestin family protein binding activity; ubiquitin protein ligase binding activity; and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including extracellular vesicle biogenesis; negative regulation of Notch signaling pathway; and ubiquitin-dependent protein catabolic process. Located in cytoplasmic vesicle; extracellular vesicle; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all ARRDC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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