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Serum levels of protein FAM189A2

NELL1 · rs72948166

Where this position leads

Drug: Hydrochlorothiazide

rs72948166 Drug: Hydrochlorothiazide Hydrochlorothiazide Drug rs72948166 rs72948166 NELL1

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−12, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 5,367 Icelandic ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.606 lower (95% confidence interval 0.44-0.77); p = 7 × 10−13.

How common The G allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 11, band 11p15.1 — in an intron of NELL1.

What each result means

G/G Two copies of the version the research linked to Serum levels of protein FAM189A2. That is the strongest link of the three results. A link in a study is not a diagnosis.
G/T One copy of the version the research linked to Serum levels of protein FAM189A2. That is a smaller link than two copies.
T/T No copy of the version the research linked to Serum levels of protein FAM189A2. This is the starting point the study compared everyone against.
Source
A genome-wide association study of serum proteins reveals shared loci with common diseases
Gudjonsson A, Gudmundsdottir V, Axelsson GT, Gudmundsson EF, Jonsson BG, Launer LJ, Lamb JR, Jennings LL, Aspelund T, Emilsson V, Gudnason V
Nature communications · 2022 · PMID 35078996 · open access

Questions about rs72948166

What is rs72948166?

rs72948166 is a single position in the genome, in or near the NELL1 gene. Published research associates it with serum levels of protein fam189a2. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does rs72948166 affect how medicines work?

NELL1 carries pharmacogenomic findings for Hydrochlorothiazide. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.

Does having rs72948166 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 rs72948166 come from?

GWAS Catalog, Nature communications 2022, PMID:35078996. 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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Serum levels of protein FAM189A2 (rs72948166). MyGeneLog™. https://www.mygenelog.com/variants/rs72948166

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