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Glycerophosphoethanolamine levels

CABIN1 · rs118183004

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.

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, 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 14,296 European ancestry individuals; replicated in 5,698 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.263 lower (95% confidence interval 0.17-0.35); p = 9 × 10−9.

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

Where it sits Chromosome 22, band 22q11.23 — in an intron of CABIN1.

What each result means

A/A Two copies of the version the research linked to Glycerophosphoethanolamine levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Glycerophosphoethanolamine levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to Glycerophosphoethanolamine levels. This is the starting point the study compared everyone against.
Source
Rare and common genetic determinants of metabolic individuality and their effects on human health
Surendran P, Stewart ID, Au Yeung VPW, Pietzner M, Raffler J, Wörheide MA, Li C, Smith RF, Wittemans LBL, Bomba L, Menni C, Zierer J
and 24 more — show all
Rossi N, Sheridan PA, Watkins NA, Mangino M, Hysi PG, Di Angelantonio E, Falchi M, Spector TD, Soranzo N, Michelotti GA, Arlt W, Lotta LA, Denaxas S, Hemingway H, Gamazon ER, Howson JMM, Wood AM, Danesh J, Wareham NJ, Kastenmüller G, Fauman EB, Suhre K, Butterworth AS, Langenberg C
Nature medicine · 2022 · PMID 36357675 · open access

Questions about rs118183004

What is rs118183004?

rs118183004 is a single position in the genome, in or near the CABIN1 gene. Published research associates it with glycerophosphoethanolamine levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs118183004 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 rs118183004 come from?

GWAS Catalog, Nature medicine 2022, PMID:36357675. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Glycerophosphoethanolamine levels (rs118183004). MyGeneLog™. https://www.mygenelog.com/variants/rs118183004

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