rs214803

This variant is located in the TGM3 gene.

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GWAS Catalog Trait Associations (2)

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

keratinocyte carcinoma

Liyanage UE et al. “Combined analysis of keratinocyte cancers identifies novel genome-wide loci.” Human Molecular Genetics 28(18):3148-3160 (2019)
Allele C
OR 1.20
p 6.0e-66
N 358,840
Large GWAS
European

basal cell carcinoma

Choquet H et al. “Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.” Communications Biology 7(1):33 (2024)
Allele A
OR 0.83
p 3.0e-102
N 812,765
Meta-analysisLarge GWAS
multi-ancestry
Liyanage UE et al. “Combined analysis of keratinocyte cancers identifies novel genome-wide loci.” Human Molecular Genetics 28(18):3148-3160 (2019)
Allele A
OR 1.22
p 3.0e-81
N 651,138
Large GWAS
European
Adolphe C et al. “Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility.” Genome Medicine 13(1):19 (2021)
Allele A
OR 0.22
p 1.0e-59
N 392,871
Large GWAS
European
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ClinVar annotation

Benign
1 submitter

TGM3-related disorder

View on ClinVar →

About TGM3

Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]

View all TGM3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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