Standard

Hypertrophic cardiomyopathy (sarcomere negative)

SLC6A6 · rs9843704

What the study found

Who was studied 170 African ancestry cases, 93 Hispanic/Latino cases, 52 East Asian ancestry cases, 1,444 European ancestry cases, 94 South Asian ancestry cases, 21 cases, 738 African ancestry controls, 78 Hispanic/Latino controls, 212 East Asian ancestry controls, 24,161 European ancestry controls, 1,132 South Asian ancestry controls, 1,023 controls.

The effect Each copy of the C allele shifted the measure 0.321 higher (95% confidence interval 0.22-0.42); p = 1 × 10−9.

How common The C allele had a frequency of about 78% in the people studied.

Where it sits Chromosome 3, band 3p25.1 — between genes, 54.7 kb from LSM3.

What each result means

C/C Two copies of the version the research linked to Hypertrophic cardiomyopathy (sarcomere negative). 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 Hypertrophic cardiomyopathy (sarcomere negative). That is a smaller link than two copies.
T/T No copy of the version the research linked to Hypertrophic cardiomyopathy (sarcomere negative). This is the starting point the study compared everyone against.
Source

Questions about rs9843704

What is rs9843704?

rs9843704 is a single position in the genome, in or near the SLC6A6 gene. Published research associates it with hypertrophic cardiomyopathy (sarcomere negative). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs9843704 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 rs9843704 come from?

GWAS Catalog, Nature genetics 2021, PMID:33495597. 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 (sarcomere negative) (rs9843704). MyGeneLog™. https://www.mygenelog.com/variants/rs9843704

← See all variants