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Systemic lupus erythematosus (PheCode 695.42)

ATP2C1 · rs567986627

Where this position leads

Condition: Systemic Lupus Erythematosus

rs567986627 Condition: Systemic Lupus Erythematosus Systemic Lupus Erythematosus Condition rs567986627 rs567986627 ATP2C1

What the study found

Who was studied 740 African American or Afro-Caribbean cases, 120,993 African American or Afro-Caribbean controls, 1,013 European ancestry cases, 449,940 European ancestry controls, 212 Hispanic or Latin American cases, 59,641 Hispanic or Latin American controls.

The effect Each copy of the C allele shifted the measure 2.93 lower (95% confidence interval 2.9-2.96); p = 2 × 10−13.

How common The C allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 3, band 3q22.1 — in an intron of ATP2C1.

What each result means

C/C Two copies of the version the research linked to Systemic lupus erythematosus (PheCode 695.42). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Systemic lupus erythematosus (PheCode 695.42). That is a smaller link than two copies.
T/T No copy of the version the research linked to Systemic lupus erythematosus (PheCode 695.42). This is the starting point the study compared everyone against.
Source
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Verma A, Huffman JE, Rodriguez A, Conery M, Liu M, Ho YL, Kim Y, Heise DA, Guare L, Panickan VA, Garcon H, Linares F
and 59 more — show all
Costa L, Goethert I, Tipton R, Honerlaw J, Davies L, Whitbourne S, Cohen J, Posner DC, Sangar R, Murray M, Wang X, Dochtermann DR, Devineni P, Shi Y, Nandi TN, Assimes TL, Brunette CA, Carroll RJ, Clifford R, Duvall S, Gelernter J, Hung A, Iyengar SK, Joseph J, Kember R, Kranzler H, Kripke CM, Levey D, Luoh SW, Merritt VC, Overstreet C, Deak JD, Grant SFA, Polimanti R, Roussos P, Shakt G, Sun YV, Tsao N, Venkatesh S, Voloudakis G, Justice A, Begoli E, Ramoni R, Tourassi G, Pyarajan S, Tsao P, O'Donnell CJ, Muralidhar S, Moser J, Casas JP, Bick AG, Zhou W, Cai T, Voight BF, Cho K, Gaziano JM, Madduri RK, Damrauer S, Liao KP
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access

Questions about rs567986627

What is rs567986627?

rs567986627 is a single position in the genome, in or near the ATP2C1 gene. Published research associates it with systemic lupus erythematosus (phecode 695.42). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs567986627 linked to?

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

Does having rs567986627 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 rs567986627 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. 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.

Systemic lupus erythematosus (PheCode 695.42) (rs567986627). MyGeneLog™. https://www.mygenelog.com/variants/rs567986627

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