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Urolithiasis

EPB41L2 · rs6928986

Where this position leads

What the study found

Who was studied 11,130 Japanese ancestry cases, 187,639 Japanese ancestry controls; replicated in 2,289 Japanese ancestry cases, 3,817 Japanese ancestry controls.

The effect Each copy of the T allele carried 1.09 times the odds of Urolithiasis; p = 4 × 10⁻¹⁰.

How common The T allele had a frequency of about 60% in the people studied.

Where it sits Chromosome 6, band 6q23.2 — in an intron of EPB41L2.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Urolithiasis — no copies of the reported risk allele.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Urolithiasis.

T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Urolithiasis compared to the general population.

Source

Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population

Tanikawa C, Kamatani Y, Terao C, Usami M, Takahashi A, Momozawa Y, Suzuki K, Ogishima S, Shimizu A, Satoh M, Matsuo K, Mikami H

and 12 more — show all

Naito M, Wakai K, Yamaji T, Sawada N, Iwasaki M, Tsugane S, Kohri K, Yu ASL, Yasui T, Murakami Y, Kubo M, Matsuda K

Journal of the American Society of Nephrology : JASN · 2019 · PMID 30975718

Questions about rs6928986

What is rs6928986?

rs6928986 is a single position in the genome, in or near the EPB41L2 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 rs6928986 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 rs6928986 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 rs6928986 come from?

GWAS Catalog, J Am Soc Nephrol 2019, PMID:30975718. 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 (rs6928986). MyGeneLog™. https://www.mygenelog.com/variants/rs6928986

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