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Blood urea nitrogen levels

PLCB1 · rs6055748

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 = 10−9, with 21 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 344,052 European ancestry individuals, 148,767 East Asian ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.0147 lower (95% confidence interval 0.0098-0.0196); p = 3 × 10−9.

Where it sits Chromosome 20, band 20p12.3 — in an intron of PLCB1.

How common each version is

AG
Korean KRGDB
A 99.9% · G 0.1%
Korean Korea4K
A 99.8% · G 0.2%
Korean Korea1K
A 99.8% · G 0.2%
Japanese ToMMo
A 99.2% · G 0.8%
Vietnamese
A 99.1% · G 0.9%
World gnomAD
A 72.6% · G 27.4%
World 1000 Genomes
A 79.1% · G 20.9%
World TOPMed
A 73.7% · G 26.3%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

A/A No copy of the version the research linked to Blood urea nitrogen levels. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Blood urea nitrogen levels. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Blood urea nitrogen levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
A cross-population atlas of genetic associations for 220 human phenotypes
Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, Ishigaki K, Suzuki A
and 34 more — show all
Suzuki K, Obara W, Yamaji K, Takahashi K, Asai S, Takahashi Y, Suzuki T, Shinozaki N, Yamaguchi H, Minami S, Murayama S, Yoshimori K, Nagayama S, Obata D, Higashiyama M, Masumoto A, Koretsune Y, Ito K, Terao C, Yamauchi T, Komuro I, Kadowaki T, Tamiya G, Yamamoto M, Nakamura Y, Kubo M, Murakami Y, Yamamoto K, Kamatani Y, Palotie A, Rivas MA, Daly MJ, Matsuda K, Okada Y
FinnGen
Nature genetics · 2021 · PMID 34594039

Questions about rs6055748

What is rs6055748?

rs6055748 is a single position in the genome, in or near the PLCB1 gene. Published research associates it with blood urea nitrogen levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs6055748 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 rs6055748 come from?

GWAS Catalog, Nature genetics 2021, PMID:34594039. 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

Blood urea nitrogen levels (rs6055748). MyGeneLog™. https://www.mygenelog.com/variants/rs6055748

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