rs12373142
This is a protein-altering variant in the SPPL2C gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of 11-beta-hydroxysteroid dehydrogenase 1 in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.05
p 2.0e-14
N 47,745
Large GWAS
European
chronic obstructive pulmonary disease
Moll M et al. “A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.” American Journal of Physiology. Lung Cellular and Molecular Physiology 321(1):L130-L143 (2021)
Allele G
OR 1.08
p 2.0e-10
N 251,091
Large GWAS
multi-ancestry
Sakornsakolpat P et al. “Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.” Nature Genetics 51(3):494-505 (2019)
Allele G
OR 1.08
p 1.0e-9
N 257,811
Large GWAS
European, East Asian, African American or Afro-Caribbean, Hispanic or Latin American, NR
About SPPL2C
Enables protein homodimerization activity. Predicted to be involved in several processes, including acrosome assembly; fusion of sperm to egg plasma membrane involved in single fertilization; and membrane protein intracellular domain proteolysis. Located in cytoplasmic side of endoplasmic reticulum membrane and lumenal side of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2025]
View all SPPL2C variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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