rs4253417
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
factor XI measurement
Sennblad B et al. “Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels.” Human Molecular Genetics 26(3):637-649 (2017)
Allele T
OR —
β 0.073
p 3.0e-193
N 16,169
Large GWAS
European
venous thromboembolism
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 C
OR 1.22
p 8.0e-96
N 650,119
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 C
OR 1.27
p 1.0e-23
N 60,139
Meta-analysisLarge GWAS
European
blood protein amount
Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele T
OR 0.39
p 4.0e-61
N 3,200
Large GWAS
European
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 0.13
p 4.0e-43
N 614,534
Major Consortium StudyLarge GWAS
multi-ancestry
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 0.21
p 2.0e-19
N 394,626
Large GWAS
European
thrombophilia
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 0.22
p 9.0e-14
N 571,476
Major Consortium StudyLarge GWAS
multi-ancestry
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…