rs10810635

This is a regulatory region variant variant in the BNC2 gene.

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GWAS Catalog Trait Associations (2)

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

freckles

Endo C et al. “Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.” Scientific Reports 8(1):8974 (2018)

Allele C

OR 1.32

p 2.0e-22

N 11,182

Large GWAS

East Asian

aging rate

Lee SG et al. “Identification of Genetic Loci Associated with Facial Wrinkles in a Large Korean Population.” The Journal of Investigative Dermatology 142(10):2824-2827 (2022)

Allele C

OR 0.89

p 2.0e-11

N 11,079

Large GWAS

East Asian

About BNC2

This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]

View all BNC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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