Sensitive

Systemic lupus erythematosus (PheCode 695.42)

NF1 · rs572949964

Where this position leads

Condition: Systemic Lupus Erythematosus

rs572949964 Condition: Systemic Lupus Erythematosus Systemic Lupus Erythematosus Condition rs572949964 rs572949964 NF1

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 2.83 lower (95% confidence interval 2.79-2.86); p = 6 × 10−12.

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

Where it sits Chromosome 17, band 17q11.2 — in an intron of NF1.

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

Questions about rs572949964

What is rs572949964?

rs572949964 is a single position in the genome, in or near the NF1 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 rs572949964 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 rs572949964 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 rs572949964 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

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Systemic lupus erythematosus (PheCode 695.42) (rs572949964). MyGeneLog™. https://www.mygenelog.com/variants/rs572949964

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