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Takayasu arteritis

KLHL33 · rs1713450

Where this position leads

Condition: Takayasu Arteritis

rs1713450 Condition: Takayasu Arteritis Takayasu Arteritis Condition rs1713450 rs1713450 KLHL33

What the study found

Who was studied 411 Japanese ancestry cases, 2,158 Japanese ancestry controls; replicated in 219 Japanese ancestry cases, 3,770 Japanese ancestry controls.

The effect Each copy of the C allele carried 1.55 times the odds of Takayasu arteritis (95% confidence interval 1.34-1.80); p = 7 × 10−9.

How common The C allele had a frequency of about 13% in the people studied.

Where it sits Chromosome 14, band 14q11.2 — in the 3′ untranslated region of KLHL33.

What each result means

C/C Two copies of the version the research linked to Takayasu arteritis. 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 Takayasu arteritis. That is a smaller link than two copies.
T/T No copy of the version the research linked to Takayasu arteritis. This is the starting point the study compared everyone against.
Source

Questions about rs1713450

What is rs1713450?

rs1713450 is a single position in the genome, in or near the KLHL33 gene. Published research associates it with takayasu arteritis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1713450 linked to?

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

Does having rs1713450 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 rs1713450 come from?

GWAS Catalog, Proc Natl Acad Sci U S A 2018, PMID:30498034. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Takayasu arteritis (rs1713450). MyGeneLog™. https://www.mygenelog.com/variants/rs1713450

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