rs2393717

This variant is located in the SPPL3 gene.

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GWAS Catalog Trait Associations (3)

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

Thyroid stimulating hormone level

Williams AT et al. “Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease.” Nature Communications 14(1):6713 (2023)

Allele C

OR 0.02

p 2.0e-12

N 247,107

Large GWAS

multi-ancestry

asthma, Eczematoid dermatitis, allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)

Allele G

OR 1.04

p 8.0e-12

N 346,545

Major Consortium StudyLarge GWAS

European

Eczematoid dermatitis, allergic rhinitis

Allele G

OR 1.04

p 1.0e-11

N 323,807

Major Consortium StudyLarge GWAS

European

About SPPL3

Enables aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Involved in T cell receptor signaling pathway; membrane protein proteolysis; and positive regulation of calcineurin-NFAT signaling cascade. Located in Golgi-associated vesicle membrane; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]