CYP2R1 · rs117913124
Where this position leads
Condition: Vitamin D Deficiency and the GC Gene
What the study found
Who was studied 1,576 European ancestry individuals, 134 African American individuals, 81 Hispanic individuals, 38 individuals; replicated in 1,307 European ancestry individuals, 722 European breast cancer cases, 693 European ancestry controls, 120 African-American individuals, 38 African American breast cancer cases, 46 African American controls, 59 Hispanic individuals, 27 Hispanic breast cancer cases, 27 Hispanic controls, 47 individuals, 23 breast cancer cases, 14 controls.
The effect Each copy of the A allele shifted the measure 5.1 ng/mL lower (95% confidence interval 3.6-6.7); p = 1 × 10−10.
Where it sits Chromosome 11, band 11p15.2 — a synonymous change in CYP2R1.
What ClinVar records
Classification
Benign/Likely benign for Vitamin D hydroxylation-deficient rickets, type 1B; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2026-02-03.
ClinVar record 1167436 NM_024514.5(CYP2R1):c.1059C>T (p.Asp353=)
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.
rs117913124 is a single position in the genome, in or near the CYP2R1 gene. Published research associates it with serum 25-hydroxyvitamin d levels. 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 Vitamin D Deficiency and the GC Gene. 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, Front Genet 2018, PMID:29545823. 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.
Serum 25-Hydroxyvitamin D levels (rs117913124). MyGeneLog™. https://www.mygenelog.com/variants/rs117913124