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Urolithiasis

PKN1 · rs60984983

Where this position leads

Condition: Urolithiasis

rs60984983 Condition: Urolithiasis Urolithiasis Condition rs60984983 rs60984983 PKN1

What the study found

Who was studied 6,638 Japanese ancestry cases, 205,815 Japanese ancestry controls.

The effect Each copy of the C allele carried 1.18 times the odds of Urolithiasis (95% confidence interval 1.124378551-1.230877914); p = 2 × 10−12.

How common The C allele had a frequency of about 21% in the people studied.

Where it sits Chromosome 19, band 19p13.12 — in an intron of PKN1.

What each result means

C/C Two copies of the version the research linked to Urolithiasis. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Urolithiasis. That is a smaller link than two copies.
T/T No copy of the version the research linked to Urolithiasis. This is the starting point the study compared everyone against.
Source
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases
Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Terao C, Amariuta T
and 77 more — show all
Gazal S, Kochi Y, Horikoshi M, Suzuki K, Ito K, Koyama S, Ozaki K, Niida S, Sakata Y, Sakata Y, Kohno T, Shiraishi K, Momozawa Y, Hirata M, Matsuda K, Ikeda M, Iwata N, Ikegawa S, Kou I, Tanaka T, Nakagawa H, Suzuki A, Hirota T, Tamari M, Chayama K, Miki D, Mori M, Nagayama S, Daigo Y, Miki Y, Katagiri T, Ogawa O, Obara W, Ito H, Yoshida T, Imoto I, Takahashi T, Tanikawa C, Suzuki T, Sinozaki N, Minami S, Yamaguchi H, Asai S, Takahashi Y, Yamaji K, Takahashi K, Fujioka T, Takata R, Yanai H, Masumoto A, Koretsune Y, Kutsumi H, Higashiyama M, Murayama S, Minegishi N, Suzuki K, Tanno K, Shimizu A, Yamaji T, Iwasaki M, Sawada N, Uemura H, Tanaka K, Naito M, Sasaki M, Wakai K, Tsugane S, Yamamoto M, Yamamoto K, Murakami Y, Nakamura Y, Raychaudhuri S, Inazawa J, Yamauchi T, Kadowaki T, Kubo M, Kamatani Y
Nature genetics · 2020 · PMID 32514122

Questions about rs60984983

What is rs60984983?

rs60984983 is a single position in the genome, in or near the PKN1 gene. Published research associates it with urolithiasis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs60984983 linked to?

On MyGeneLog this position is linked to Urolithiasis. The research behind each link, and its sources, are set out on that condition page.

Does having rs60984983 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 rs60984983 come from?

GWAS Catalog, Nature genetics 2020, PMID:32514122. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Urolithiasis (rs60984983). MyGeneLog™. https://www.mygenelog.com/variants/rs60984983

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