rs4268748

This is a intron variant variant in the DEF8 gene.

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GWAS Catalog Trait Associations (10)

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 C
OR 1.33
p 2.0e-44
N 61,457
Large GWAS
European

sebaceous gland disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.09
p 1.0e-39
N 398,370
Major Consortium StudyLarge GWAS
European

Vitiligo

Jin Y et al. “Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.” Nature Genetics 48(11):1418-1424 (2016)
Allele T
OR 1.41
p 3.0e-33
N 40,258
Large GWAS
European

seborrheic keratosis

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.07
p 3.0e-31
N 392,469
Major Consortium StudyLarge GWAS
European

benign neoplasm of skin

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.07
p 7.0e-19
N 398,521
Major Consortium StudyLarge GWAS
European

aging rate

Law MH et al. “Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging.” The Journal of Investigative Dermatology 137(9):1887-1894 (2017)
Allele T
OR 0.13
p 1.0e-15
N 5,087
Large GWAS

Abnormality of skin pigmentation

Liu F et al. “Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.” Human Genetics 134(8):823-35 (2015)
Allele C
OR —
β 0.009
p 3.0e-15
N 5,857
Large GWAS
European

melanoma

Ingold N et al. “Exploring the Germline Genetics of In Situ and Invasive Cutaneous Melanoma: A Genome-Wide Association Study Meta-Analysis.” Jama Dermatology 160(9):964-971 (2024)
Allele T
OR 0.19
p 1.0e-13
N 738,497
Meta-analysisLarge GWAS
European

healthspan, parental longevity, life span determination trait

Timmers PRHJ et al. “Multivariate genomic scan implicates novel loci and haem metabolism in human ageing.” Nature Communications 11(1):3570 (2020)
Allele T
OR —
p 7.0e-12
N 837,415
Large GWAS
European
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Research that mentions this SNP (1)

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Technical note: Quantitative measures of iris color using high resolution photographs
AssociationN=402Melissa Edwards et al.(2012)· American Journal of Physical Anthropology

This genome-wide association study (GWAS) of pigmentary traits in East Asian populations (N=305 skin, N=342 iris) identifies a genome-wide significant signal for iris color in the OCA2 region, with rs1800414 (His615Arg) explaining 11.9%, 10.4%, and 6% of variation in b*, a*, and L* coordinates respectively. While no genome-wide significant signals were detected for skin pigmentation, rs2373391 in ZNF804B was replicated in independent Chinese samples (p=0.003).

Traits studied:Iris colorSkin pigmentation
PubMedDOIMetascience Observatory

About DEF8

Predicted to enable zinc ion binding activity. Predicted to be involved in lysosome localization; positive regulation of bone resorption; and positive regulation of ruffle assembly. [provided by Alliance of Genome Resources, Jul 2025]

View all DEF8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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