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Who was studied 5,201 European ancestry cases, 9,066 European ancestry controls.
The effect
Each copy of the T allele carried 2.01 times the odds of Systemic lupus erythematosus; p = 2 × 10−59.
Where it sits Chromosome 1, band 1q25.3 — a synonymous change in NCF2.
What ClinVar records
ClassificationBenign/Likely benign for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 9 submitters), last evaluated 2026-02-04.
ClinVar record 197668NM_000433.4(NCF2):c.606G>A (p.Ala202=)
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/CNo copy of the version the research linked to Systemic lupus erythematosus. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Systemic lupus erythematosus. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Systemic lupus erythematosus. That is the strongest link of the three results. A link in a study is not a diagnosis.
Nature genetics · 2015 · PMID 26502338 · open access
Questions about rs17849501
What is rs17849501?
rs17849501 is a single position in the genome, in or near the SMG7 gene. Published research associates it with systemic lupus erythematosus. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs17849501 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 rs17849501 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 rs17849501 come from?
GWAS Catalog, Nat Genet 2015, PMID:26502338. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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