SMG7 · rs2274065
Where this position leads
Condition: Systemic Lupus Erythematosus
What the study found
Who was studied at least 5,877 East Asian ancestry cases, at least 188,588 East Asian ancestry controls, at least 14,355 European ancestry cases, at least 505,956 European ancestry controls, at least 1,393 admixed American ancestry cases, at least 2,327 admixed American ancestry controls (MTAG boosted by autoimmune diseases samples).
The effect Each copy of the A allele shifted the measure 0.129 higher (95% confidence interval 0.096-0.162); p = 1 × 10−14.
Where it sits Chromosome 1, band 1q25.3 — in the 5′ untranslated region of SMG7.
What ClinVar records
Classification
Benign for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2, Acute myeloid leukemia, Malignant tumor of esophagus, Uterine carcinosarcoma, Thymoma and 1 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2018-09-11.
ClinVar record 294087 NM_000433.3(NCF2):c.-240T>G
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.
rs2274065 is a single position in the genome, in or near the SMG7 gene. Published research associates it with systemic lupus erythematosus (mtag). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
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.
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.
GWAS Catalog, Nature communications 2023, PMID:36750564. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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 (MTAG) (rs2274065). MyGeneLog™. https://www.mygenelog.com/variants/rs2274065