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Vitamin B12 levels

CD320 · rs2336573

What the study found

Who was studied 38,229 Danish, Icelandic ancestry individuals.

The effect The reported allele is T; the catalogue records no effect size ; p = 8 × 10−59.

How common The T allele had a frequency of about 3% in the people studied.

Where it sits Chromosome 19, band 19p13.2 — a missense change in CD320.

What ClinVar records

Classification Benign for Methylmalonic acidemia due to transcobalamin receptor defect, Adrenocortical carcinoma, hereditary, Uveal melanoma, Malignant lymphoma, large B-cell, diffuse, Colorectal cancer and 2 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 5 submitters), last evaluated 2026-02-02. ClinVar record 136684 NM_016579.4(CD320):c.658G>A (p.Gly220Arg)

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

C/C No copy of the version the research linked to Vitamin B12 levels. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Vitamin B12 levels. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Vitamin B12 levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs2336573

What is rs2336573?

rs2336573 is a single position in the genome, in or near the CD320 gene. Published research associates it with vitamin b12 levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2336573 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 rs2336573 come from?

GWAS Catalog, PLoS genetics 2013, PMID:23754956. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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.

Vitamin B12 levels (rs2336573). MyGeneLog™. https://www.mygenelog.com/variants/rs2336573

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