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Protein kinase C-binding protein NELL1 levels

NELL1 · rs184837117

Where this position leads

Drug: Hydrochlorothiazide

rs184837117 Drug: Hydrochlorothiazide Hydrochlorothiazide Drug rs184837117 rs184837117 NELL1

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−17, 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 10,708 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.456 lower (95% confidence interval 0.35-0.56); p = 2 × 10−17.

How common The A allele had a frequency of about 2% in the people studied.

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

What each result means

A/A Two copies of the version the research linked to Protein kinase C-binding protein NELL1 levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/C One copy of the version the research linked to Protein kinase C-binding protein NELL1 levels. That is a smaller link than two copies.
C/C No copy of the version the research linked to Protein kinase C-binding protein NELL1 levels. This is the starting point the study compared everyone against.
Source
Mapping the proteo-genomic convergence of human diseases
Pietzner M, Wheeler E, Carrasco-Zanini J, Cortes A, Koprulu M, Wörheide MA, Oerton E, Cook J, Stewart ID, Kerrison ND, Luan J, Raffler J
and 9 more — show all
Arnold M, Arlt W, O'Rahilly S, Kastenmüller G, Gamazon ER, Hingorani AD, Scott RA, Wareham NJ, Langenberg C
Science (New York, N.Y.) · 2021 · PMID 34648354

Questions about rs184837117

What is rs184837117?

rs184837117 is a single position in the genome, in or near the NELL1 gene. Published research associates it with protein kinase c-binding protein nell1 levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does rs184837117 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 rs184837117 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 rs184837117 come from?

GWAS Catalog, Science (New York, N.Y.) 2021, PMID:34648354. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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Protein kinase C-binding protein NELL1 levels (rs184837117). MyGeneLog™. https://www.mygenelog.com/variants/rs184837117

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