rs7040024

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 Germ Cell Tumor

Litchfield K et al. “Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.” Nature Genetics 49(7):1133-1140 (2017)
Allele A
OR 1.53
p 2.0e-45
N 24,573
Large GWAS
European
Wang Z et al. “Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.” Nature Genetics 49(7):1141-1147 (2017)
Allele A
OR 1.49
p 1.0e-32
N 17,528
Meta-analysisLarge GWAS
European

testicular carcinoma

Kanetsky PA et al. “A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.” Human Molecular Genetics 20(15):3109-17 (2011)
Allele A
OR 1.70
p 1.0e-11
N 1,268
Large GWAS
European
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Research that mentions this SNP (1)

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Variants in BAK1, SPRY4, and GAB2 are associated with pediatric germ cell tumors: A report from the children's oncology group
AssociationN=366Marcotte EL et al.(2017)· Genes, Chromosomes and Cancer

Case-parent triad study of 366 pediatric and adolescent germ cell tumor (GCT) cases examining 26 SNPs from adult testicular GCT GWAS. Three variants reached multiple testing-corrected significance: SPRY4 rs4624820 (OR=0.70, protective), BAK1 rs210138 (OR=1.70, particularly strong for testicular tumors OR=3.31), and GAB2 rs948662 (OR=1.56). Maternal effects observed for KITLG rs4474514 (OR=1.66) and rs7221274 near TEX14/RAD51C/PPM1E (OR=1.63).

Traits studied:Adolescent germ cell tumorsExtragonadal germ cell tumorsGerm cell tumorsGerminomasIntracranial germ cell tumorsOvarian germ cell tumorsPediatric germ cell tumorsTeratomasTesticular germ cell tumorsYolk sac tumors
PubMedDOIMetascience Observatory

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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