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Familial combined hyperlipidemia defined by Consensus criteria

ELAPOR1 · rs1337247

Where this position leads

Condition: Familial Combined Hyperlipidemia Defined by Consensus Criteria

rs1337247 Condition: Familial Combined Hyperlipidemia Defined by Consensus Criteria Familial Combined Hyperlipidemia De… Condition rs1337247 rs1337247 ELAPOR1

What the study found

Who was studied 39,961 British ancestry cases, 309,261 British ancestry controls.

The effect Each copy of the C allele shifted the measure 0.0756 higher (95% confidence interval 0.054-0.097); p = 6 × 10−12.

How common The C allele had a frequency of about 85% in the people studied.

Where it sits Chromosome 1, band 1p13.3 — in an intron of ELAPOR1.

What each result means

A/A No copy of the version the research linked to Familial combined hyperlipidemia defined by Consensus criteria. This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to Familial combined hyperlipidemia defined by Consensus criteria. That is a smaller link than two copies.
C/C Two copies of the version the research linked to Familial combined hyperlipidemia defined by Consensus criteria. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs1337247

What is rs1337247?

rs1337247 is a single position in the genome, in or near the ELAPOR1 gene. Published research associates it with familial combined hyperlipidemia defined by consensus criteria. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1337247 linked to?

On MyGeneLog this position is linked to Familial Combined Hyperlipidemia Defined by Consensus Criteria. The research behind each link, and its sources, are set out on that condition page.

Does having rs1337247 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 rs1337247 come from?

GWAS Catalog, Atherosclerosis 2022, PMID:34906840. 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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Familial combined hyperlipidemia defined by Consensus criteria (rs1337247). MyGeneLog™. https://www.mygenelog.com/variants/rs1337247

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