NOTCH4 · rs3131290
Where this position leads
Condition: Systemic Lupus Erythematosus
What the study found
Who was studied 16,491 European ancestry cases, 1,202,106 European ancestry controls.
The effect Each copy of the A allele shifted the measure 0.192 higher (95% confidence interval 0.16-0.23); p = 2 × 10−29.
Where it sits Chromosome 6, band 6p21.32 — inside NOTCH4.
What ClinVar records
Classification
Benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-05-04.
ClinVar record 1253464 NM_004557.4(NOTCH4):c.1862-13C>T
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.
rs3131290 is a single position in the genome, in or near the NOTCH4 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.
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, Mammalian genome : official journal of the International Mammalian Genome Society 2026, PMID:42581184. 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 (rs3131290). MyGeneLog™. https://www.mygenelog.com/variants/rs3131290