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Neonatal circulating Complement Component 4 (C4) protein concentration

TNXB · rs17207895

What the study found

Who was studied 68,768 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.16 higher (95% confidence interval 0.12-0.2); p = 2 × 10−15.

Where it sits Chromosome 6, band 6p21.33 — a missense change in TNXB.

What ClinVar records

Classification Benign/Likely benign for Ehlers-Danlos syndrome, Cardiovascular phenotype; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 7 submitters), last evaluated 2026-02-04. ClinVar record 261173 NM_001365276.2(TNXB):c.9050A>G (p.Lys3017Arg)

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

C/C Two copies of the version the research linked to Neonatal circulating Complement Component 4 (C4) protein concentration. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Neonatal circulating Complement Component 4 (C4) protein concentration. That is a smaller link than two copies.
T/T No copy of the version the research linked to Neonatal circulating Complement Component 4 (C4) protein concentration. This is the starting point the study compared everyone against.
Source

Questions about rs17207895

What is rs17207895?

rs17207895 is a single position in the genome, in or near the TNXB gene. Published research associates it with neonatal circulating complement component 4 (c4) protein concentration. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs17207895 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 rs17207895 come from?

GWAS Catalog, Cell genomics 2023, PMID:38116117. 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.

Neonatal circulating Complement Component 4 (C4) protein concentration (rs17207895). MyGeneLog™. https://www.mygenelog.com/variants/rs17207895

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