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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
What the study found
Who was studied 568 European ancestry cases, 1,860 European ancestry controls.
The effect
The reported allele is A; the catalogue records no effect size
; p = 3 × 10−16.
How common The A allele had a frequency of about 3% in the people studied.
Where it sits Chromosome 11, band 11p15.5 — a missense change in PKP3.
What each result means
A/ATwo copies of the version the research linked to Anorectal malformation. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to Anorectal malformation. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Anorectal malformation. This is the starting point the study compared everyone against.
rs202227463 is a single position in the genome, in or near the PKP3 gene. Published research associates it with anorectal malformation. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs202227463 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 rs202227463 come from?
GWAS Catalog, PloS one 2019, PMID:31136621. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
0 624Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity0Meta AI0Microsoft · Copilot0Amazon2Apple0China (ByteDance, Huawei, Baidu…)0Others4Total6Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
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