rs6048

This is a variant in the F9 gene that changes a threonine to an alanine.

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GWAS Catalog Trait Associations (1)

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 A
OR 0.07
p 9.0e-31
N 1,508,386
Large GWAS
multi-ancestry
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele A
OR 0.05
p 2.0e-8
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 A
OR 1.07
p 3.0e-17
N 650,119
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★★
12 submitters7 publications

Deep venous thrombosis, protection against; Hereditary factor IX deficiency disease (HEMB); Thrombophilia, X-linked, due to factor 9 defect; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Brief Report: Single‐nucleotide polymorphisms in VKORC1 are risk factors for systemic lupus erythematosus in Asians
AssociationN=3,739Rachel Kaiser et al.(2013)· Arthritis &amp; Rheumatism

Two SNPs in VKORC1 (rs9934438 and rs9923231) were identified as genetic risk factors for systemic lupus erythematosus (SLE) in Asian populations. In discovery cohort (263 SLE cases, 357 controls), both SNPs showed strong associations (OR=2.40-2.45, p=6.1×10^-9 to 2.4×10^-9), which were confirmed in a larger replication cohort (1496 cases, 993 controls) with OR=1.53-1.54 (p=4.3-5.1×10^-6), and remained significant after ancestry adjustment (OR=1.34, p=0.0029-0.0032).

Traits studied:Deep venous thrombosisSystemic lupus erythematosusThrombosis
PubMedDOIMetascience Observatory

About F9

This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]

View all F9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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