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Dipeptidyl peptidase 1 levels

CTSC · rs11019400

What the study found

Who was studied 2,893 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.617 lower (95% confidence interval 0.53-0.71); p = 3 × 10−40.

How common The A allele had a frequency of about 92% in the people studied.

Where it sits Chromosome 11, band 11q14.2 — in the 5′ untranslated region of CTSC.

What ClinVar records

Classification Benign/Likely benign for Haim-Munk syndrome, Papillon-Lefèvre syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 5 submitters), last evaluated 2024-11-27. ClinVar record 258188 NM_001814.6(CTSC):c.-18T>C

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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/A Two copies of the version the research linked to Dipeptidyl peptidase 1 levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Dipeptidyl peptidase 1 levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to Dipeptidyl peptidase 1 levels. This is the starting point the study compared everyone against.
Source

Questions about rs11019400

What is rs11019400?

rs11019400 is a single position in the genome, in or near the CTSC gene. Published research associates it with dipeptidyl peptidase 1 levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs11019400 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 rs11019400 come from?

GWAS Catalog, Nature communications 2021, PMID:34857772. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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.

Dipeptidyl peptidase 1 levels (rs11019400). MyGeneLog™. https://www.mygenelog.com/variants/rs11019400

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