SLFN14 · rs8073060
Where this position leads
Condition: Blood Cell Counts
Strength of the evidence
Its strongest genetic-study result is p = 10−40, with 11 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 166,066 European ancestry individuals.
The effect Each copy of the A allele shifted the measure 0.03 higher (95% confidence interval 0.022-0.038); p = 9 × 10−14.
How common The A allele had a frequency of about 29% in the people studied.
Where it sits Chromosome 17, band 17q12 — a missense change in SLFN14.
What ClinVar records
Classification
Benign/Likely benign for Platelet-type bleeding disorder 20; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 5 submitters), last evaluated 2024-11-28.
ClinVar record 1245977 NM_001129820.2(SLFN14):c.2735A>T (p.Tyr912Phe)
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
AT
A 17.0% · T 83.0%
A 15.3% · T 84.7%
A 15.5% · T 84.5%
A 13.2% · T 86.9%
A 15.7% · T 84.3%
A 33.9% · T 66.1%
A 35.0% · T 65.0%
A 34.7% · T 65.3%
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.
rs8073060 is a single position in the genome, in or near the SLFN14 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, Cell 2016, PMID:27863252. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
Platelet count (rs8073060). MyGeneLog™. https://www.mygenelog.com/variants/rs8073060