rs412658
This is a downstream gene variant variant.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
chromosome, telomeric region length
▶Research that mentions this SNP (2)
▶Genetic determinants of telomere length and risk of pancreatic cancer: A PANDoRA studyAssociationN=6,700Campa D. et al.(2019)· International Journal of Cancer
This case-control association study analyzed 10 telomere-length-associated SNPs in relation to pancreatic cancer risk in 2,374 cases and 4,326 controls from the PANDoRA consortium. The strongest association was with TERT-rs2736100 (OR=1.54, p=1.54×10⁻¹⁰), and a novel protective association was found with NAF1-rs7675998 (OR=0.80, p=1.87×10⁻⁶). A genetic telomere length score (teloscore) combining these variants reached genome-wide significance for PDAC risk (p=2.98×10⁻⁹ for highest vs. lowest quintile).
▶Meta-analysisN=1,513,186Unknown
Mendelian randomization study of 16 genetic variants in 10 telomere-related loci using summary data from 420,081 cancer cases and 1,093,105 controls. Genetically increased telomere length was associated with higher cancer risk (glioma OR 5.27 [3.15-8.81], lung adenocarcinoma 3.19 [2.40-4.22], neuroblastoma 2.98 [1.92-4.62]) but reduced risk for cardiovascular diseases and some immune conditions.
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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