rs112761681
This is a intron variant variant in the MED13L gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cutaneous melanoma
Liyanage UE et al. “Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma.” The Journal of Investigative Dermatology 142(6):1607-1616 (2022)
Allele A
OR 0.09
p 2.0e-14
N 380,287
Large GWAS
European
About MED13L
The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]
View all MED13L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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