rs78707713

This variant is located in the TSPAN15 gene.

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GWAS Catalog Trait Associations (6)

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

venous thromboembolism

Thibord F et al. “Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.” Circulation 146(16):1225-1242 (2022)
Allele T
OR 0.21
p 1.0e-111
N 1,066,917
Large GWAS
European
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele T
OR 0.22
p 3.0e-52
N 1,063,277
Meta-analysisLarge GWAS
multi-ancestry
Klarin D et al. “Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.” Nature Genetics 51(11):1574-1579 (2019)
Allele T
OR 1.27
p 2.0e-55
N 650,119
Large GWAS
multi-ancestry
Lindström S et al. “Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.” Blood 134(19):1645-1657 (2019)
Allele T
OR 1.20
p 3.0e-30
N 202,356
Large GWAS
multi-ancestry
Germain M et al. “Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.” American Journal of Human Genetics 96(4):532-42 (2015)
Allele T
OR 1.31
p 2.0e-16
N 60,139
Meta-analysisLarge GWAS
European

deep vein thrombosis

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 0.29
p 1.0e-44
N 623,167
Major Consortium StudyLarge GWAS
multi-ancestry

heart disease

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 0.25
p 3.0e-27
N 447,635
Major Consortium StudyLarge GWAS
European

pulmonary embolism, Pulmonary Infarction

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 0.25
p 6.0e-27
N 447,859
Major Consortium StudyLarge GWAS
European

pulmonary embolism

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.29
p 1.0e-13
N 394,626
Large GWAS
European

prothrombin time measurement

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 0.04
p 2.0e-13
N 165,956
Major Consortium StudyLarge GWAS
European

About TSPAN15

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]

View all TSPAN15 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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