rs8105767

This is a intron variant variant in the LOC112268248 gene.

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GWAS Catalog Trait Associations (6)

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

chromosome, telomeric region length

Burren OS et al. “Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.” Nature Genetics 56(9):1832-1840 (2024)
Allele A
OR 0.04
p 2.0e-82
N 438,351
Major Consortium StudyLarge GWAS
European
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 0.03
p 2.0e-33
N 327,790
Large GWAS
European
Li C et al. “Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.” American Journal of Human Genetics 106(3):389-404 (2020)
Allele A
OR 0.04
p 5.0e-13
N 78,592
Large GWAS
European

uterine fibroid

Kim J et al. “Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.” Nature Communications 16(1):2273 (2025)
Allele A
OR 0.06
p 8.0e-16
N 434,152
Meta-analysisLarge GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.05
p 5.0e-8
N 338,926
Large GWAS
multi-ancestry

nodular goiter

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)
Allele G
OR 0.05
p 2.0e-14
N 2,460,445
Large GWAS
multi-ancestry

neural cell adhesion molecule L1-like protein amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 8.0e-14
N 47,745
Large GWAS
European

Uterine leiomyoma

Sliz E et al. “Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.” Nature Communications 14(1):542 (2023)
Allele A
OR 0.95
p 1.0e-8
N 367,903
Large GWAS
European
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Research that mentions this SNP (2)

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Genetic determinants of telomere length and risk of pancreatic cancer: A PANDoRA study
AssociationN=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).

Traits studied:Lymphocyte telomere lengthPancreatic ductal adenocarcinoma
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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