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Age-related hearing impairment

CDH23 · rs143282422

Where this position leads

Condition: Age-Related Hearing Loss

rs143282422 Condition: Age-Related Hearing Loss Age-Related Hearing Loss Condition rs143282422 rs143282422 CDH23

What the study found

Who was studied 147,997 European ancestry cases, 575,269 European ancestry controls.

The effect Each copy of the A allele shifted the measure 0.0315 higher (95% confidence interval 0.022-0.041); p = 6 × 10−12.

How common The A allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 10, band 10q22.1 — a missense change in CDH23.

What ClinVar records

Classification Conflicting classifications of pathogenicity for Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12, Nonsyndromic genetic hearing loss, Usher syndrome type 1, Retinal dystrophy; criteria provided, conflicting classifications (1 of 4 stars, 17 submitters), last evaluated 2026-06-01. ClinVar record 44114 NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)

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.

What each result means

A/A Two copies of the version the research linked to Age-related hearing impairment. 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 Age-related hearing impairment. That is a smaller link than two copies.
G/G No copy of the version the research linked to Age-related hearing impairment. This is the starting point the study compared everyone against.
Source

Questions about rs143282422

What is rs143282422?

rs143282422 is a single position in the genome, in or near the CDH23 gene. Published research associates it with age-related hearing impairment. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs143282422 linked to?

On MyGeneLog this position is linked to Age-Related Hearing Loss. The research behind each link, and its sources, are set out on that condition page.

Does having rs143282422 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 rs143282422 come from?

GWAS Catalog, American journal of human genetics 2022, PMID:35580588. 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.

Age-related hearing impairment (rs143282422). MyGeneLog™. https://www.mygenelog.com/variants/rs143282422

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