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Venous thromboembolism

F9 · rs6048

Where this position leads

Condition: Venous Thromboembolism

rs6048 Condition: Venous Thromboembolism Venous Thromboembolism Condition rs6048 rs6048 F9

What the study found

Who was studied 23,151 European ancestry cases, 553,439 European ancestry controls, 2,261 African American cases, 49,400 African American controls, 654 Hispanic cases, 21,214 Hispanic controls; replicated in 17,672 cases, 167,295 controls.

The effect Each copy of the A allele carried 1.07 times the odds of Venous thromboembolism (95% confidence interval 1.05-1.09); p = 3 × 10−17.

How common The A allele had a frequency of about 72% in the people studied.

Where it sits Chromosome X, band Xq27.1 — a missense change in F9.

What ClinVar records

Classification Benign for Deep venous thrombosis, protection against, Hereditary factor IX deficiency disease, Thrombophilia, X-linked, due to factor 9 defect; reviewed by expert panel (3 of 4 stars, 13 submitters), last evaluated 2024-02-09. ClinVar record 10588 NM_000133.4(F9):c.580A>G (p.Thr194Ala)

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Two copies of the version the research linked to Venous thromboembolism. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Venous thromboembolism. That is a smaller link than two copies.
G/G No copy of the version the research linked to Venous thromboembolism. This is the starting point the study compared everyone against.
Source
Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease
Klarin D, Busenkell E, Judy R, Lynch J, Levin M, Haessler J, Aragam K, Chaffin M, Haas M, Lindström S, Assimes TL, Huang J
and 30 more — show all
Min Lee K, Shao Q, Huffman JE, Kabrhel C, Huang Y, Sun YV, Vujkovic M, Saleheen D, Miller DR, Reaven P, DuVall S, Boden WE, Pyarajan S, Reiner AP, Trégouët DA, Henke P, Kooperberg C, Gaziano JM, Concato J, Rader DJ, Cho K, Chang KM, Wilson PWF, Smith NL, O'Donnell CJ, Tsao PS, Kathiresan S, Obi A, Damrauer SM, Natarajan P
INVENT Consortium · Veterans Affairs’ Million Veteran Program
Nature genetics · 2019 · PMID 31676865 · open access

Questions about rs6048

What is rs6048?

rs6048 is a single position in the genome, in or near the F9 gene. Published research associates it with venous thromboembolism. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs6048 linked to?

On MyGeneLog this position is linked to Venous Thromboembolism. The research behind each link, and its sources, are set out on that condition page.

Does having rs6048 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs6048 come from?

GWAS Catalog, Nat Genet 2019, PMID:31676865. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Venous thromboembolism (rs6048). MyGeneLog™. https://www.mygenelog.com/variants/rs6048

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