DYNC1H1 · rs13749
Where this position leads
Condition: Celiac Disease
What the study found
Who was studied 394,642 European ancestry individuals.
The effect Each copy of the C allele shifted the measure 0.0178 lower (95% confidence interval 0.013-0.023); p = 4 × 10−13.
How common The C allele had a frequency of about 15% in the people studied.
Where it sits Chromosome 14, band 14q32.31 — a synonymous change in DYNC1H1.
What ClinVar records
Classification
Benign for Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease, Cortical dysplasia, complex, with other brain malformations 13, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures and 1 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 14 submitters), last evaluated 2026-02-03.
ClinVar record 128929 NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
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.
rs13749 is a single position in the genome, in or near the DYNC1H1 gene. Published research associates it with platelet count (ukb data field 30080). 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 Celiac Disease. 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 genetics 2025, PMID:39789286. 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.
Platelet count (UKB data field 30080) (rs13749). MyGeneLog™. https://www.mygenelog.com/variants/rs13749