HSPG2 · rs2229474
Where this position leads
Condition: Celiac Disease
What the study found
Who was studied 47,745 European ancestry individuals.
The effect Each copy of the A allele shifted the measure 0.533 higher (95% confidence interval 0.48-0.58); p = 3 × 10−111.
How common The A allele had a frequency of about 1% in the people studied.
Where it sits Chromosome 1, band 1p36.12 — a missense change in HSPG2.
What ClinVar records
Classification
Benign/Likely benign for Schwartz-Jampel syndrome, Lethal Kniest-like syndrome, Schwartz-Jampel syndrome type 1, Connective tissue disorder, HSPG2-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 13 submitters), last evaluated 2026-06-01.
ClinVar record 197547 NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)
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.
rs2229474 is a single position in the genome, in or near the HSPG2 gene. Published research associates it with tinagl1 protein levels. 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.
TINAGL1 protein levels (rs2229474). MyGeneLog™. https://www.mygenelog.com/variants/rs2229474