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A/ANo copy of the C allele. Typical vitamin B6 (PLP) blood levels in the discovery study.
A/CCarries one copy of the C allele. In the discovery study, each copy of this allele was associated with about 1.45 ng/mL higher plasma vitamin B6 (95% CI 0.90-2.00), consistent with somewhat reduced activity of ALPL, the main enzyme that clears vitamin B6 from the blood.
C/CCarries two copies of the C allele. The discovery study reported this as a per-copy effect (about 1.45 ng/mL higher plasma vitamin B6 per allele, 95% CI 0.90-2.00) rather than a separate figure for two copies.
Vitamin B6 status is measured directly with a blood test; talk to a doctor about it rather than acting on genotype alone.
American journal of human genetics · 2009 · PMID 19303062
Questions about rs4654748
What is rs4654748?
rs4654748 is a single position in the genome, in or near the ALPL gene. Published research associates it with vitamin b6 (pyridoxal-5-phosphate) blood levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs4654748 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 rs4654748 come from?
Tanaka et al. 2009, American Journal of Human Genetics — genome-wide association study of vitamin B6, B12, folate and homocysteine blood concentrations. PMID 19303062. 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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