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Torsin-1A-interacting protein 1 levels

F5 · rs6027

Where this position leads

What the study found

Who was studied 10,708 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.653 higher (95% confidence interval 0.6-0.71); p = 3 × 10⁻¹¹⁴.

How common The T allele had a frequency of about 94% in the people studied.

Where it sits Chromosome 1, band 1q24.2 — a missense change in F5.

What ClinVar records

Classification Benign/Likely benign for Thrombophilia due to activated protein C resistance, Congenital factor V deficiency; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 5 submitters), last evaluated 2026-02-04. ClinVar record 255215 NM_000130.5(F5):c.6665A>G (p.Asp2222Gly)

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

C/C No copy of the version the research linked to Torsin-1A-interacting protein 1 levels. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Torsin-1A-interacting protein 1 levels. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Torsin-1A-interacting protein 1 levels. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Mapping the proteo-genomic convergence of human diseases

Pietzner M, Wheeler E, Carrasco-Zanini J, Cortes A, Koprulu M, Wörheide MA, Oerton E, Cook J, Stewart ID, Kerrison ND, Luan J, Raffler J

and 9 more — show all

Arnold M, Arlt W, O'Rahilly S, Kastenmüller G, Gamazon ER, Hingorani AD, Scott RA, Wareham NJ, Langenberg C

Science (New York, N.Y.) · 2021 · PMID 34648354

Questions about rs6027

What is rs6027?

rs6027 is a single position in the genome, in or near the F5 gene. Published research associates it with torsin-1a-interacting protein 1 levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does rs6027 affect how medicines work?

F5 carries pharmacogenomic findings for Combined hormonal contraceptives. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.

Does having rs6027 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 rs6027 come from?

GWAS Catalog, Science (New York, N.Y.) 2021, PMID:34648354. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Torsin-1A-interacting protein 1 levels (rs6027). MyGeneLog™. https://www.mygenelog.com/variants/rs6027

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