PTCH1 · rs28583690
Where this position leads
Condition: Blood Cell Counts
Strength of the evidence
Its strongest genetic-study result is p = 10−12, with 2 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 507,850 East Asian ancestry individuals, 420,829 European ancestry individuals.
The effect Each copy of the T allele shifted the measure 0.016 higher (95% confidence interval 0.011-0.021); p = 3 × 10−12.
Where it sits Chromosome 9, band 9q22.32 — in an intron of PTCH1.
What ClinVar records
Classification
Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-06-14.
ClinVar record 677054 NM_000264.5(PTCH1):c.3449+129A>G
Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.
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.
How common each version is
CT
C 10.2% · T 89.8%
C 11.0% · T 89.0%
C 10.8% · T 89.2%
C 8.6% · T 91.4%
C 5.1% · T 94.9%
C 9.6% · T 90.4%
C 8.4% · T 91.6%
C 9.5% · T 90.5%
The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.
rs28583690 is a single position in the genome, in or near the PTCH1 gene. Published research associates it with red blood cell count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.
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 2025, PMID:40436827. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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Red blood cell count (rs28583690). MyGeneLog™. https://www.mygenelog.com/variants/rs28583690