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CDH5 protein levels

ADAMTSL2 · rs11507717

What the study found

Who was studied 496 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.357 higher (95% confidence interval 0.24-0.48); p = 1 × 10−8.

Where it sits Chromosome 9, band 9q34.2 — in the 5′ untranslated region of ADAMTSL2.

What ClinVar records

Classification Benign for Geleophysic dysplasia 1, Hepatocellular carcinoma; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 4 submitters), last evaluated 2021-07-14. ClinVar record 680461 NM_014694.4(ADAMTSL2):c.-150-79A>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 No copy of the version the research linked to CDH5 protein levels. This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to CDH5 protein levels. That is a smaller link than two copies.
C/C Two copies of the version the research linked to CDH5 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs11507717

What is rs11507717?

rs11507717 is a single position in the genome, in or near the ADAMTSL2 gene. Published research associates it with cdh5 protein levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs11507717 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 rs11507717 come from?

GWAS Catalog, Scientific reports 2024, PMID:38565889. 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.

CDH5 protein levels (rs11507717). MyGeneLog™. https://www.mygenelog.com/variants/rs11507717

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