rs9419958

This variant is located in the STN1 gene.

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GWAS Catalog Trait Associations (5)

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

chromosome, telomeric region length

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 T
OR 0.06
p 5.0e-19
N 78,592
Large GWAS
European
Mangino M et al. “Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.” Human Molecular Genetics 21(24):5385-94 (2012)
Allele T
OR 0.08
p 9.0e-11
N 9,190
Meta-analysis
European

uterine fibroid

Gallagher CS et al. “Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.” Nature Communications 10(1):4857 (2019)
Allele T
OR 1.10
p 1.0e-16
N 244,324
Large GWAS
European

prostate specific antigen amount

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 T
OR 0.03
p 3.0e-13
N 359,803
Major Consortium StudyLarge GWAS
multi-ancestry

basal cell carcinoma

Choquet H et al. “Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.” Communications Biology 7(1):33 (2024)
Allele C
OR 0.94
p 2.0e-10
N 802,297
Meta-analysisLarge GWAS
European
Liyanage UE et al. “Combined analysis of keratinocyte cancers identifies novel genome-wide loci.” Human Molecular Genetics 28(18):3148-3160 (2019)
Allele C
OR 1.08
p 5.0e-10
N 651,138
Large GWAS
European

platelet count

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 T
OR 0.03
p 2.0e-11
N 235
Major Consortium StudySmall GWAS
African American or Afro-Caribbean
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Research that mentions this SNP (1)

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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

About STN1

OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]

View all STN1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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