Variant: rs4268748

present in Gene: DEF8 present in Chromosome: 16 Position on Chromosome: 89960104 Alleles of this Variant: T/C

rs4268748 in DEF8 gene and Skin Pigmentation PMID 25963972 2015 Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

rs4268748 in DEF8 gene and Squamous cell carcinoma PMID 26829030 2016 Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

rs4268748 in DEF8 gene and Vitiligo PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.