rs210138

This is a intron variant variant in the BAK1 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 G
OR 1.48
p 4.0e-37
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 G
OR 1.55
p 3.0e-34
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 G
OR 1.44
p 2.0e-24
N 5,932
Large GWAS
European
Rapley EA et al. “A genome-wide association study of testicular germ cell tumor.” Nature Genetics 41(7):807-10 (2009)
Allele G
OR 1.50
p 1.0e-13
N 2,165
Large GWAS
European
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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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Associations between variants in KITLG, SPRY4, BAK1, and DMRT1 and pediatric germ cell tumors
AssociationN=193Poynter JN et al.(2012)· Genes, Chromosomes and Cancer

This candidate gene association study evaluated four SNPs previously identified as susceptibility loci for adult testicular germ cell tumors (KITLG rs4474514, SPRY4 rs4324715, BAK1 rs210138, DMRT1 rs755383) in a pediatric population (52 cases, 141 controls). BAK1 rs210138 showed significant association with pediatric germ cell tumors overall (OR = 1.80, P = 0.02), while KITLG rs4474514 and SPRY4 rs4324715 were significantly associated only in the adolescent age group (10-21 years), suggesting age-dependent genetic susceptibility to pediatric germ cell tumors.

Traits studied:Extragonadal tumorsGerminomasGonadal tumorsPediatric germ cell tumorsTeratomasYolk sac tumors
PubMedDOIMetascience Observatory

About BAK1

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]

View all BAK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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