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Cerebrospinal fluid protein HNMT levels

HNMT · rs11558538

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 2,524 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.695 lower (95% confidence interval 0.64-0.74); p = 8 × 10⁻¹⁴¹.

How common The T allele had a frequency of about 11% in the people studied.

Where it sits Chromosome 2, band 2q22.1 — a missense change in HNMT.

What ClinVar records

Classification Benign; risk factor for Inherited susceptibility to asthma, HNMT-related disorder; no assertion criteria provided (0 of 4 stars, 2 submitters), last evaluated 2019-11-25. ClinVar record 5160 NM_006895.3(HNMT):c.314C>T (p.Thr105Ile)

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 Cerebrospinal fluid protein HNMT levels. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Cerebrospinal fluid protein HNMT levels. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Cerebrospinal fluid protein HNMT levels. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Low overlap of plasma and CSF protein quantitative trait loci affects protein discovery for neurological disease

Western D, Yang C, Timsina J, Liu M, Wang C, Campbell MC, Kotzbauer P, Perlmutter JS, Schindler SE, Morris JC, Holtzman DM, Alvarez I

and 12 more — show all

Pastor P, Wyss-Coray T, Marquié M, Cano A, Sung YJ, de Rojas I, Ruiz A, Budde J, Fernandez MV, Tarawneh R, Ibanez L, Cruchaga C

Science translational medicine · 2026 · PMID 42054495

Questions about rs11558538

What is rs11558538?

rs11558538 is a single position in the genome, in or near the HNMT gene. Published research associates it with cerebrospinal fluid protein hnmt levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs11558538 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 rs11558538 come from?

GWAS Catalog, Science translational medicine 2026, PMID:42054495. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Cerebrospinal fluid protein HNMT levels (rs11558538). MyGeneLog™. https://www.mygenelog.com/variants/rs11558538

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