rs7705526

This is a intron variant variant in the TERT gene.

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GWAS Catalog Trait Associations (43)

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 A
OR —
p 6.0e-163
N 696,882
Large GWAS
multi-ancestry
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 3.0e-105
N 480,305
Large GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.05
p 5.0e-45
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 1.0e-58
N 394,642
Large GWAS
European
Thompson A et al. “Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume.” Human Molecular Genetics 30(21):2040-2051 (2021)
Allele A
OR 0.19
p 2.0e-57
N 362,595
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.05
p 3.0e-17
N 55,789
Major Consortium StudyLarge GWAS
Hispanic or Latin American

platelet crit

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 5.0e-143
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.04
p 2.0e-58
N 408,112
Large GWAS
European
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 A
OR 0.05
p 2.0e-41
N 164,339
Large GWAS
European

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 A
OR —
p 5.0e-108
N 727,624
Large GWAS
multi-ancestry

fms-related tyrosine kinase 3 ligand measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.11
p 7.0e-96
N 47,745
Large GWAS
European

mean corpuscular hemoglobin

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 0.04
p 2.0e-95
N 478,500
Large GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 2.0e-38
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 2.0e-84
N 394,642
Large GWAS
European

mean reticulocyte volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.04
p 2.0e-71
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 7.0e-32
N 408,112
Large GWAS
European

lung adenocarcinoma

Qin N et al. “Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma.” Frontiers of Medicine 15(2):275-291 (2021)
Allele A
OR 1.31
p 4.0e-65
N 42,936
Large GWAS
East Asian, European
Gorman BR et al. “Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk.” Nature Communications 15(1):8629 (2024)
Allele A
OR 1.23
p 2.0e-62
N 143,595
Large GWAS
multi-ancestry
McKay JD et al. “Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.” Nature Genetics 49(7):1126-1132 (2017)
Allele A
OR 1.25
p 4.0e-35
N 66,756
Large GWAS
European
Dai J et al. “Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.” The Lancet. Respiratory Medicine 7(10):881-891 (2019)
Allele A
OR 1.40
p 3.0e-52
N 42,936
Large GWAS
multi-ancestry

erythrocyte count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 6.0e-63
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 1.0e-32
N 408,112
Large GWAS
European

neutrophil count

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 A
OR —
p 4.0e-61
N 627,215
Large GWAS
multi-ancestry
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 0.03
p 4.0e-45
N 432,666
Large GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.02
p 4.0e-22
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 1.0e-39
N 394,642
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.04
p 4.0e-34
N 274,370
Major Consortium StudyLarge GWAS
European
Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele A
OR —
p 1.0e-12
N 234,802
Large GWAS
European
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 A
OR 0.04
p 8.0e-20
N 170,702
Large GWAS
European

myeloproliferative disorder

Bao EL et al. “Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells.” Nature 586(7831):769-775 (2020)
Allele A
OR 1.58
p 5.0e-54
N 585,140
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.13
p 4.0e-12
N 627,304
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication

Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis

View on ClinVar →
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Research that mentions this SNP (3)

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Identification of novel epithelial ovarian cancer loci in women of African ancestry
AssociationN=1,990Ani Manichaikul et al.(2020)· International Journal of Cancer

Genome-wide association study of epithelial ovarian cancer in 755 African ancestry cases and 1,235 controls identified 4 novel loci associated with overall EOC (rs4525119 in AKR1C3 p=4.9×10⁻⁷, rs7643459 in LOC101927394 p=8.4×10⁻⁷, rs4286604 near UGT2A2 p=8.5×10⁻⁷, rs142091544 near WWC1 p=9.4×10⁻⁷) and 6 loci for high-grade serous ovarian carcinoma (rs37792 near FST p=6.0×10⁻⁸, rs57403204 near MAGEC1 p=1.7×10⁻⁷, rs79079890 in LOC105376360 p=3.0×10⁻⁷, rs66459581 near PRPSAP1 p=5.1×10⁻⁷, rs116046250 in GABRG3 p=8.7×10⁻⁷, rs192876988 near GK2 p=9.2×10⁻⁷). The GK2 SNP showed inverse association with EOC in European women (p=0.002) and eQTL evidence for decreased GK2 expression (p=0.004). A European ancestry-derived polygenic risk score showed positive association with EOC in African ancestry women (OR=1.20 per SD, p=4.46×10⁻⁹).

Traits studied:ER negative breast cancerER positive breast cancerEpithelial ovarian cancerHigh-grade serous ovarian carcinomaProstate cancer
PubMedDOIMetascience Observatory
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A comprehensive gene–environment interaction analysis in Ovarian Cancer using genome‐wide significant common variants
AssociationN=25,537Sehee Kim et al.(2019)· International Journal of Cancer

A comprehensive gene-environment interaction study in ovarian cancer examining 28 genome-wide significant variants and 7 environmental risk factors (oral contraceptive use, parity, tubal ligation, breastfeeding, menopausal hormone therapy, BMI, endometriosis) in 9,971 cases and 15,566 controls. The strongest multiplicative interaction identified was between rs13255292 and OCP use (P = 3.48 × 10⁻⁴), with differential protective effects by genotype and duration of use, though no interactions remained significant after multiple testing correction.

Traits studied:Epithelial ovarian cancerFallopian tube cancerOvarian cancerPrimary peritoneal cancer
PubMedDOIMetascience Observatory
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IRF4 rs12203592 functional variant and melanoma survival
Meta-analysisN=140,000Miriam Potrony et al.(2017)· International Journal of Cancer

Genome-wide association meta-analysis of cutaneous melanoma combining pathologically confirmed cases with 23andMe self-reported cases identified 54 genome-wide significant loci. The study confirmed 19 of 21 previously reported loci, revealed complex LD structure at the AHR/AGR3 region (rs117132860, p=3.8×10−21), and identified novel associations including those near MFSD12/FZR1. Key variants included rs12215602 (IRF4), rs16953002 and rs62034121 (FTO), and variants associated with pigmentation phenotypes (hair color, nevus count, sunburn susceptibility).

Traits studied:Childhood sunburnsCutaneous melanomaEase of tanningMelanoma histological subtypes (superficial spreading, nodular, lentigo maligna, acral)Melanoma susceptibilityNevus countPigmentation traits (hair color, skin color, eye color)Telomere length
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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