rs2735948

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GWAS Catalog Trait Associations (2)

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

pancreatic carcinoma

Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)
Allele A
OR 1.45
p 2.0e-8
N 411,013
Large GWAS
European

Uterine leiomyoma, breast carcinoma

Wu X et al. “Investigating the shared genetic architecture of uterine leiomyoma and breast cancer: A genome-wide cross-trait analysis.” American Journal of Human Genetics 109(7):1272-1285 (2022)
Allele A
OR —
p 3.0e-8
N 550,152
Large GWAS
European
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Research that mentions this SNP (2)

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Telomere structure and maintenance gene variants and risk of five cancer types
Meta-analysisN=136,308Sara Karami et al.(2016)· International Journal of Cancer

Meta-analysis of 204,993 SNPs in 22 telomere structure and maintenance genes identified 13 independent SNPs associated with colorectal, breast, prostate, ovarian, and lung cancer risk in 61,851 cases and 74,457 controls of European descent. Seven of these associations were novel findings. Notable findings include rs12655062 (positively associated with prostate cancer, inversely with colorectal/ovarian cancers), rs75316749 (positively associated with colorectal, breast, ovarian, and lung cancers), rs974404 and rs12144215 in DCLRE1B (inversely associated with prostate/lung and colorectal/breast/ovarian cancers respectively), rs34978822 in RTEL1 (inversely associated with prostate/lung cancers), and rs116895242 near POT1 (inversely associated with colorectal, ovarian, and lung cancers).

Traits studied:Aggressive prostate cancerBladder cancerBreast cancerChronic lymphatic leukemiaChronic lymphocytic leukemiaColorectal cancerEndometrial cancerEndometrioid ovarian cancerEsophageal cancerEstrogen receptor negative breast cancerGastric cancerGlioblastomaGliomaGraves diseaseHigh-grade gliomaLung adenocarcinomaLung cancerMelanomaMultiple myelomaNasopharyngeal cancerOsteosarcomaOvarian cancerPancreatic cancerProstate cancerRenal cancerRheumatoid arthritisSerous ovarian cancerSkin cancerSquamous lung cancerTesticular cancer
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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