NF1 · rs1048317
Where this position leads
Condition: Type 2 Diabetes
What the study found
Who was studied 2,765 Qatari ancestry cases, 8,671 Qatari ancestry controls, 180,834 European ancestry cases, 1,159,055 European ancestry controls, 180,834 East Asian ancestry cases, 1,159,055 East Asian ancestry controls, 180,834 South Asian ancestry cases, 1,159,055 South Asian ancestry controls, 180,834 African ancestry cases, 1,159,055 African ancestry controls, 180,834 Hispanic or Latin American cases, 1,159,055 Hispanic or Latin American controls.
The effect Each copy of the C allele shifted the measure 0.0376 lower (95% confidence interval 0.028-0.047); p = 4 × 10−14.
Where it sits Chromosome 17, band 17q11.2 — in the 3′ untranslated region of NF1.
What ClinVar records
Classification
Benign for Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis, Neurofibromatosis, type 1, Neurofibromatosis, familial spinal; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-01-13.
ClinVar record 322603 NM_001042492.3(NF1):c.*2829T>C
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.
rs1048317 is a single position in the genome, in or near the NF1 gene. Published research associates it with type 2 diabetes. 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 Type 2 Diabetes. 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, BMC medical genomics 2024, PMID:38685053. 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.
Type 2 diabetes (rs1048317). MyGeneLog™. https://www.mygenelog.com/variants/rs1048317