rs12696304

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (3)

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

chromosome, telomeric region length

Prescott J et al. “Genome-wide association study of relative telomere length.” Plos One 6(5):e19635 (2011)
Allele G
OR 0.03
p 2.0e-14
N 3,554
Large GWAS
European
Codd V et al. “Common variants near TERC are associated with mean telomere length.” Nature Genetics 42(3):197-9 (2010)
Allele G
OR 0.11
p 4.0e-14
N 2,917
Large GWAS
European

idiopathic pulmonary fibrosis

Allen RJ et al. “Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis.” American Journal of Respiratory and Critical Care Medicine 201(5):564-574 (2020)
Allele G
OR 1.31
p 7.0e-13
N 11,259
Large GWAS
European

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele G
OR 0.01
p 2.0e-9
N 180,726
Large GWAS
European
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Research that mentions this SNP (3)

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Telomere length, telomere‐related genes, and breast cancer risk: The breast cancer health disparities study
AssociationN=8,123Andrew J. Pellatt et al.(2013)· Genes, Chromosomes and Cancer

This case-control study of 3,754 breast cancer cases and 4,369 controls from admixed US and Mexican women examined telomere length (TL) and nine telomere-related genes. Longer TL was associated with increased breast cancer risk (OR 1.87, 95% CI 1.38-2.55), with strongest association among women with ≥70% Indigenous American ancestry (OR 3.11, 95% CI 1.74-5.67). Multiple SNPs showed associations with breast cancer risk, including TEP1 rs938886 (OR 0.82), TERT rs4246742 (OR 0.85), TERT rs2242652 (OR 1.51), TERF2 rs3785074 (OR 1.13), and TNKS rs6990300 (OR 0.89). Several SNPs showed differential associations by hormone receptor status and genetic ancestry.

Traits studied:Breast cancerBreast cancer by hormone receptor status (ER/PR)
PubMedDOIMetascience Observatory
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Genetic variants implicated in telomere length associated with left ventricular function in patients with hypertension and cardiac organ damage
AssociationN=1,106Matthias Huber et al.(2012)· Journal of Molecular Medicine

This association study of 1,106 hypertensive patients examined genetic variants implicated in telomere length (TL) and their relationship to left ventricular function. SNPs in BICD1 (chromosome 12p11) and near TERC (chromosome 3q26) showed significant associations with ejection fraction (EF): rs2630578 CC+CG vs GG showed -1.8% EF difference (p=0.002), rs10506083 AA+AG vs GG showed -1.6% EF difference (p=0.017), and rs10844149 AA+AG vs GG showed +1.2% EF difference (p=0.022). The BICD1 haplotype 3 was associated with -1.8% lower EF in carriers (p=0.002).

Traits studied:Hypertension with cardiac organ damageLeft ventricular ejection fractionLeft ventricular mass indexTelomere length
PubMedDOIMetascience Observatory
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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.

Traits studied:Abdominal aortic aneurysmAlzheimer's diseaseBladder cancerCeliac diseaseCoronary heart diseaseEndometrial cancerGliomaInterstitial lung diseaseKidney cancerLung adenocarcinomaMelanomaNeuroblastomaSerous low-malignancy-potential ovarian cancerTelomere lengthTesticular cancer
DOIMetascience 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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