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Pallidum iron levels (quantitative susceptibility mapping)

COL5A2 · rs73978810

What the study found

Who was studied 39,533 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.39 lower (95% confidence interval 0.35-0.43); p = 3 × 10−75.

Where it sits Chromosome 2, band 2q32.2 — in an intron of COL5A2.

What ClinVar records

Classification Likely benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-06-14. ClinVar record 673986 NM_000393.5(COL5A2):c.2446-84A>G

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 Pallidum iron levels (quantitative susceptibility mapping). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Pallidum iron levels (quantitative susceptibility mapping). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Pallidum iron levels (quantitative susceptibility mapping). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs73978810

What is rs73978810?

rs73978810 is a single position in the genome, in or near the COL5A2 gene. Published research associates it with pallidum iron levels (quantitative susceptibility mapping). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs73978810 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 rs73978810 come from?

GWAS Catalog, Neurobiology of disease 2024, PMID:38789058. 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.

Pallidum iron levels (quantitative susceptibility mapping) (rs73978810). MyGeneLog™. https://www.mygenelog.com/variants/rs73978810

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