rs2807031

This is a intron variant variant in the XAGE3 gene.

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GWAS Catalog Trait Associations (1)

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

prostate carcinoma

Schumacher FR et al. “Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.” Nature Genetics 50(7):928-936 (2018)
Allele C
OR 1.06
p 8.0e-16
N 140,254
Large GWAS
European
Al Olama AA et al. “A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.” Nature Genetics 46(10):1103-9 (2014)
Allele C
OR 1.07
p 9.0e-10
N 87,040
Meta-analysisLarge GWAS
multi-ancestry

About XAGE3

This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is expressed in placenta and fetal liver/spleen, and may function in inhibiting cancer cell growth. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene generates 2 transcript variants differing in the 5' UTR. [provided by RefSeq, Jul 2008]

View all XAGE3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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