rs9420907

This is a intron variant variant 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.

lipoma

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 C
OR 0.12
p 7.0e-20
N 608,502
Major Consortium StudyLarge GWAS
multi-ancestry

platelet 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 0.02
p 8.0e-16
N 542,827
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 0.02
p 5.0e-10
N 408,112
Large GWAS
European

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 0.02
p 3.0e-13
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 0.02
p 5.0e-10
N 408,112
Large GWAS
European

chromosome, telomeric region length

Codd V et al. “Identification of seven loci affecting mean telomere length and their association with disease.” Nature Genetics 45(4):422-7, 427e1-2 (2013)
Allele A
OR 0.07
p 7.0e-11
N 37,684
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

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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