PTCH1 · rs2405134
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.
Strength of the evidence
Its strongest genetic-study result is p = 10−8, with 1 associations in the GWAS Catalog.
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied 390,964 European ancestry individuals; replicated in 105,030 East Asian ancestry individuals.
The effect Each copy of the A allele shifted the measure 5.58 z-score higher; p = 2 × 10−8.
How common The A allele had a frequency of about 31% in the people studied.
Where it sits Chromosome 9, band 9q22.32 — in an intron of ERCC6L2-AS1.
rs2405134 is a single position in the genome, in or near the PTCH1 gene. Published research associates it with serum alkaline phosphatase levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
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.
GWAS Catalog, Nature communications 2021, PMID:33547301. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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.
Serum alkaline phosphatase levels (rs2405134). MyGeneLog™. https://www.mygenelog.com/variants/rs2405134