rs12185268

This is a protein-altering variant in the SPPL2C gene.

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GWAS Catalog Trait Associations (2)

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

hemoglobin measurement

Timoteo VJ et al. “Common and ethnic-specific genetic determinants of hemoglobin concentration between Taiwanese Han Chinese and European Whites: findings from comparative two-stage genome-wide association studies.” The Journal of Nutritional Biochemistry 111:109126 (2023)

Allele G

OR —

β 0.052

p 1.0e-31

N 46,904

Large GWAS

European

Parkinson disease

Do CB et al. “Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.” Plos Genetics 7(6):e1002141 (2011)

Allele A

OR 1.30

p 3.0e-14

N 33,050

Large GWAS

European

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Research that mentions this SNP (1)

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Genomewide association study for susceptibility genes contributing to familial Parkinson disease

AssociationN=1,724Nathan Pankratz et al.(2009)· Human Genetics

First genome-wide association study (GWAS) of familial Parkinson disease in 857 cases and 867 controls identified association with SNPs in GAK/DGKQ (p=3.4×10⁻⁶, OR=1.69), SNCA (p=5.5×10⁻⁵, OR=1.35), and MAPT (p=2.0×10⁻⁵, OR=0.56). Meta-analysis with Fung et al. strengthened evidence for GAK/DGKQ (p=2.5×10⁻⁷) and MAPT regions, confirming previously implicated genes and nominating new susceptibility loci for PD.

Traits studied:Parkinson diseasefamilial Parkinson disease

PubMed DOI Metascience Observatory

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]