rs4635969

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GWAS Catalog Trait Associations (4)

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 A
OR 1.46
p 3.0e-27
N 17,528
Meta-analysisLarge 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 T
OR 1.39
p 5.0e-24
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 T
OR 1.54
p 1.0e-23
N 5,926
Large GWAS
European

chromosome, telomeric region length

Liu WS et al. “Whole exome sequencing analyses reveal novel genes in telomere length and their biomedical implications.” Geroscience 46(5):5365-5385 (2024)
Allele A
OR 0.02
p 2.0e-11
N 327,790
Large GWAS
European

breast cancer, lung cancer

Guo H et al. “A genome-wide cross-cancer meta-analysis highlights the shared genetic links of five solid cancers.” Frontiers in Microbiology 14:1116592 (2023)
Allele G
OR —
p 2.0e-9
N 256,160
Meta-analysisLarge GWAS
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Research that mentions this SNP (2)

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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
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Fine‐mapping of a region of chromosome 5p15.33 (TERT‐CLPTM1L) suggests a novel locus in TERT and a CLPTM1L haplotype are associated with glioma susceptibility in a Chinese population
AssociationN=2,007Yingjie Zhao et al.(2012)· International Journal of Cancer

Fine-mapping study in Chinese Han population (983 cases, 1,024 controls) identified rs2853677 in TERT significantly associated with glioma risk (adjusted OR 1.96, p=6.8×10⁻⁶). Additionally, a CLPTM1L haplotype G-T-A was associated with increased glioma susceptibility (OR 1.44, p=6.0×10⁻³), suggesting both TERT and CLPTM1L contribute to glioma etiology in this population.

Traits studied:GlioblastomaGlioma
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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