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Cerebrospinal fluid protein SERPINB6 levels

SERPINB6 · rs2295769

What the study found

Who was studied 2,524 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.224 lower (95% confidence interval 0.19-0.26); p = 2 × 10−34.

How common The C allele had a frequency of about 31% in the people studied.

Where it sits Chromosome 6, band 6p25.2 — a missense change in SERPINB6.

What ClinVar records

Classification Benign for Autosomal recessive nonsyndromic hearing loss 91; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2026-02-03. ClinVar record 44132 NM_004568.6(SERPINB6):c.268A>G (p.Met90Val)

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 Cerebrospinal fluid protein SERPINB6 levels. 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 Cerebrospinal fluid protein SERPINB6 levels. That is a smaller link than two copies.
T/T No copy of the version the research linked to Cerebrospinal fluid protein SERPINB6 levels. This is the starting point the study compared everyone against.
Source

Questions about rs2295769

What is rs2295769?

rs2295769 is a single position in the genome, in or near the SERPINB6 gene. Published research associates it with cerebrospinal fluid protein serpinb6 levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2295769 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 rs2295769 come from?

GWAS Catalog, Science translational medicine 2026, PMID:42054495. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Cerebrospinal fluid protein SERPINB6 levels (rs2295769). MyGeneLog™. https://www.mygenelog.com/variants/rs2295769

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