rs41293836

This is a regulatory region variant variant in the TGM1 gene.

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GWAS Catalog Trait Associations (2)

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

chromosome, telomeric region length

Dorajoo R et al. “Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies.” Nature Communications 10(1):2491 (2019)
Allele C
OR 0.23
p 2.0e-42
N 16,759
Large GWAS
multi-ancestry

uterine fibroid

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.15
p 6.0e-9
N 338,926
Large GWAS
multi-ancestry

About TGM1

The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]

View all TGM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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