High light scatter reticulocyte percentage of red cells
PKLR · rs116100695
2 20182216Reads by AI crawlersClaude1ChatGPT0Google · Gemini0Perplexity0Meta AI8Microsoft · Copilot2Amazon2Apple1Others6Total20Counted 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.
Who was studied 170,763 European ancestry individuals.
The effect
Each copy of the A allele shifted the measure 0.273 (percentage) higher (95% confidence interval 0.19-0.35); p = 4 × 10−11.
How common The A allele had a frequency of about 0% in the people studied.
Where it sits Chromosome 1, band 1q22 — a missense change in PKLR.
What ClinVar records
ClassificationPathogenic/Likely pathogenic for Pyruvate kinase deficiency of red cells, Pyruvate kinase hyperactivity, PKLR-related disorder, Inborn genetic diseases; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 33 submitters), last evaluated 2026-03-20.
ClinVar record 1513NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
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.
What each result means
A/APublished research associates this genotype (two copies of the reported risk allele) with a higher likelihood of High light scatter reticulocyte percentage of red cells compared to the general population.
A/GPublished research associates this genotype (one copy of the reported risk allele) with an intermediate association with High light scatter reticulocyte percentage of red cells.
G/GPublished research associates this genotype with typical/baseline likelihood of High light scatter reticulocyte percentage of red cells — no copies of the reported risk allele.
rs116100695 is a single position in the genome, in or near the PKLR gene. Published research associates it with high light scatter reticulocyte percentage of red cells. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs116100695 linked to?
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.
Does having rs116100695 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 rs116100695 come from?
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.
2 20182216Reads by AI crawlersClaude1ChatGPT0Google · Gemini0Perplexity0Meta AI8Microsoft · Copilot2Amazon2Apple1Others6Total20Counted 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.
Quoting this page
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High light scatter reticulocyte percentage of red cells (rs116100695). MyGeneLog™. https://www.mygenelog.com/variants/rs116100695