rs10510452

This is a downstream gene variant variant.

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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

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 G
OR 1.22
p 3.0e-10
N 17,528
Meta-analysisLarge GWAS
European
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 G
OR 1.18
p 1.0e-9
N 24,573
Large GWAS
European
Kristiansen W et al. “Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.” Human Molecular Genetics 24(14):4138-46 (2015)
Allele G
OR 1.32
p 3.0e-9
N 8,013
Large GWAS
European

testicular carcinoma

Ruark E et al. “Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.” Nature Genetics 45(6):686-9 (2013)
Allele A
OR 1.24
p 1.0e-8
N 5,932
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

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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