rs113469387
This variant is located in the MED13L gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cutaneous melanoma
Landi MT et al. “Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.” Nature Genetics 52(5):494-504 (2020)
Allele A
OR 1.10
p 9.0e-10
N 411,948
Large GWAS
European
nevus count, cutaneous melanoma
Landi MT et al. “Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.” Nature Genetics 52(5):494-504 (2020)
Allele G
OR —
p 1.0e-8
N 477,725
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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