rs7863616

This variant is located in the DMRT1 gene.

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GWAS Catalog Trait Associations (2)

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

testicular carcinoma

Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)
Allele C
OR 1.58
p 1.0e-14
N 360,538
Large GWAS
European

uterine fibroid

Kim J et al. “Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.” Nature Communications 16(1):2273 (2025)
Allele T
OR 0.04
p 5.0e-11
N 709,132
Meta-analysisLarge GWAS
multi-ancestry

About DMRT1

This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]

View all DMRT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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