rs4449583

This variant is located in the TERT gene.

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GWAS Catalog Trait Associations (8)

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

erythrocyte volume

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR 0.07
p 4.0e-47
N 121,047
Large GWAS
East Asian
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.05
p 1.0e-35
N 172,433
Large GWAS
European
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele C
OR 0.04
p 7.0e-24
N 153,950
Large GWAS
East Asian

red blood cell density

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR 0.05
p 1.0e-31
N 150,708
Large GWAS
East Asian

erythrocyte count

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.04
p 2.0e-25
N 172,952
Large GWAS
European

C-X-C motif chemokine 16 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 8.0e-16
N 47,745
Large GWAS
European

hematocrit

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR —
p 1.0e-13
N 737,823
Large GWAS
multi-ancestry

natural killer cell receptor 2B4 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 6.0e-13
N 47,745
Large GWAS
European

immature platelet count

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele T
OR 0.05
p 5.0e-11
N 36,618
Large GWAS
European

body composition measurement

Wu Z et al. “Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk.” Nature Communications 16(1):7490 (2025)
Allele T
OR 0.04
p 4.0e-9
N 39,144
Large GWAS
European
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Research that mentions this SNP (1)

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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

About TERT

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]

View all TERT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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