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Who was studied 340,567 European ancestry individuals, 5,974 African ancestry individuals, 7,283 South Asian ancestry individuals.
The effect
Each copy of the G allele shifted the measure 0.038 lower (95% confidence interval 0.032-0.044); p = 9 × 10−36.
Where it sits Chromosome 16, band 16p13.3 — a missense change in MAPK8IP3.
What ClinVar records
ClassificationBenign for Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, MAPK8IP3-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2021-07-14.
ClinVar record 1185436NM_001318852.2(MAPK8IP3):c.2260A>G (p.Thr754Ala)
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
A/APublished research associates this genotype with typical/baseline likelihood of Insulin-like growth factor 1 levels — no copies of the reported risk allele.
A/GPublished research associates this genotype (one copy of the reported risk allele) with an intermediate association with Insulin-like growth factor 1 levels.
G/GPublished research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Insulin-like growth factor 1 levels compared to the general population.
Nature genetics · 2021 · PMID 33462484 · open access
Questions about rs2294619
What is rs2294619?
rs2294619 is a single position in the genome, in or near the MAPK8IP3 gene. Published research associates it with insulin-like growth factor 1 levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs2294619 linked to?
On MyGeneLog this position is linked to Gout. The research behind each link, and its sources, are set out on that condition page.
Does having rs2294619 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 rs2294619 come from?
GWAS Catalog, Nature genetics 2021, PMID:33462484. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
0 91215Reads by AI crawlersClaude1ChatGPT0Google · Gemini0Perplexity0Meta AI0Microsoft · Copilot0Amazon2Apple0China (ByteDance, Huawei, Baidu…)1ByteDance (Doubao)1Others5Total9Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
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