rs187150787
This is a intron variant variant in the SPPL3 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
type 2 diabetes mellitus
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele A
OR 1.23
p 7.0e-15
N 210,865
Large GWAS
East Asian
Vujkovic M et al. “Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.” Nature Genetics 52(7):680-691 (2020)
Allele A
OR 0.18
p 7.0e-12
N 216,287
Meta-analysisLarge GWAS
East Asian, South Asian
Suzuki K et al. “Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.” Nature Genetics 51(3):379-386 (2019)
Allele A
OR 1.20
p 6.0e-12
N 191,764
Large GWAS
East Asian
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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