TUBB1 · rs6070697
Where this position leads
Condition: Blood Cell Counts
What the study found
Who was studied 153,950 Korean ancestry individuals.
The effect Each copy of the A allele shifted the measure 0.078 higher (95% confidence interval 0.066-0.09); p = 3 × 10−37.
How common The A allele had a frequency of about 11% in the people studied.
Where it sits Chromosome 20, band 20q13.32 — a missense change in TUBB1.
What ClinVar records
Classification
Benign/Likely benign for Macrothrombocytopenia, isolated, 1, autosomal dominant; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 7 submitters), last evaluated 2026-02-04.
ClinVar record 1297317 NM_030773.4(TUBB1):c.920G>A (p.Arg307His)
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.
rs6070697 is a single position in the genome, in or near the TUBB1 gene. Published research associates it with platelet 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.
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.
Platelet count (rs6070697). MyGeneLog™. https://www.mygenelog.com/variants/rs6070697