rs35063026

This is a 3 prime utr variant variant in the SPATA33 gene.

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GWAS Catalog Trait Associations (5)

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

squamous cell carcinoma

Asgari MM et al. “Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.” The Journal of Investigative Dermatology 136(5):930-937 (2016)
Allele T
OR 1.33
p 1.0e-20
N 61,457
Large GWAS
European

puberty onset measurement

Hollis B et al. “Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan.” Nature Communications 11(1):1536 (2020)
Allele T
OR 0.01
p 2.0e-17
N 174,401
Large GWAS
European

facial pigmentation

Jacobs LC et al. “A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.” The Journal of Investigative Dermatology 135(7):1735-1742 (2015)
Allele T
OR 20.29
p 9.0e-15
N 2,844
Large GWAS
European

hair color

Lona-Durazo F et al. “A large Canadian cohort provides insights into the genetic architecture of human hair colour.” Communications Biology 4(1):1253 (2021)
Allele C
OR 0.74
p 2.0e-14
N 12,398
Large GWAS
European

About SPATA33

Predicted to be involved in mitophagy. Predicted to act upstream of or within fertilization; flagellated sperm motility; and protein localization. Predicted to be located in male germ cell nucleus and sperm mitochondrial sheath. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all SPATA33 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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