Gene Knowledge Graph
UTC
Standard

Hypertrophic cardiomyopathy

DNAJC18 · rs4385202

Where this position leads

Condition: Hypertrophic Cardiomyopathy

rs4385202 Condition: Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy Condition rs4385202 rs4385202 DNAJC18

What the study found

Who was studied 1,733 European ancestry cases, 6,628 European ancestry controls; replicated in 2,694 European ancestry cases, 47,486 European ancestry controls.

The effect The reported allele is A; the catalogue records no effect size ; p = 5 × 10−10.

How common The A allele had a frequency of about 31% in the people studied.

Where it sits Chromosome 5, band 5q31.2 — between genes, 1 kb from DNAJC18.

What each result means

A/A Two copies of the version the research linked to Hypertrophic cardiomyopathy. 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 Hypertrophic cardiomyopathy. That is a smaller link than two copies.
G/G No copy of the version the research linked to Hypertrophic cardiomyopathy. This is the starting point the study compared everyone against.
Source
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
Tadros R, Francis C, Xu X, Vermeer AMC, Harper AR, Huurman R, Kelu Bisabu K, Walsh R, Hoorntje ET, Te Rijdt WP, Buchan RJ, van Velzen HG
and 58 more — show all
van Slegtenhorst MA, Vermeulen JM, Offerhaus JA, Bai W, de Marvao A, Lahrouchi N, Beekman L, Karper JC, Veldink JH, Kayvanpour E, Pantazis A, Baksi AJ, Whiffin N, Mazzarotto F, Sloane G, Suzuki H, Schneider-Luftman D, Elliott P, Richard P, Ader F, Villard E, Lichtner P, Meitinger T, Tanck MWT, van Tintelen JP, Thain A, McCarty D, Hegele RA, Roberts JD, Amyot J, Dubé MP, Cadrin-Tourigny J, Giraldeau G, L'Allier PL, Garceau P, Tardif JC, Boekholdt SM, Lumbers RT, Asselbergs FW, Barton PJR, Cook SA, Prasad SK, O'Regan DP, van der Velden J, Verweij KJH, Talajic M, Lettre G, Pinto YM, Meder B, Charron P, de Boer RA, Christiaans I, Michels M, Wilde AAM, Watkins H, Matthews PM, Ware JS, Bezzina CR
Nature genetics · 2021 · PMID 33495596 · open access

Questions about rs4385202

What is rs4385202?

rs4385202 is a single position in the genome, in or near the DNAJC18 gene. Published research associates it with hypertrophic cardiomyopathy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4385202 linked to?

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

Does having rs4385202 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 rs4385202 come from?

GWAS Catalog, Nature genetics 2021, PMID:33495596. 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.

Hypertrophic cardiomyopathy (rs4385202). MyGeneLog™. https://www.mygenelog.com/variants/rs4385202

← See all variants