rs12373124

This is a synonymous variant in the SPPL2C gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

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

alopecia

Hagenaars SP et al. “Genetic prediction of male pattern baldness.” Plos Genetics 13(2):e1006594 (2017)

Allele C

OR —

β 0.080

p 1.0e-27

N 52,874

Large GWAS

European

androgenetic alopecia

Li R et al. “Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.” Plos Genetics 8(5):e1002746 (2012)

Allele T

OR 1.33

p 5.0e-10

N 12,806

Large GWAS

European

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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