rs656933

This variant is located in the SPPL3 gene.

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GWAS Catalog Trait Associations (1)

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

aspartate aminotransferase measurement

Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)

Allele A

OR 8.02

p 1.0e-15

N 389,565

Large GWAS

multi-ancestry

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]

View all SPPL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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