rs2900333

This variant is located in the ATF7IP 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

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 C
OR 1.32
p 1.0e-13
N 5,932
Large GWAS
European
Turnbull C et al. “Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.” Nature Genetics 42(7):604-7 (2010)
Allele C
OR 1.27
p 6.0e-10
N 5,926
Large GWAS
European

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 C
OR 1.20
p 9.0e-13
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 C
OR 1.18
p 3.0e-8
N 17,528
Meta-analysisLarge 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 ATF7IP

ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]

View all ATF7IP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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