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Neonatal methylmalonyl + 3-hydroxy-isovalerylcarnitine (C4DC + C5-OH) levels (maternal genotype effect)

IER5L · rs1075650

What the study found

Who was studied 8,744 East Asian ancestry individuals; replicated in 19,041 East Asian ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.198 lower; p = 2 × 10−33.

How common The C allele had a frequency of about 9% in the people studied.

Where it sits Chromosome 9, band 9q34.11 — in the 3′ untranslated region of IER5L.

What each result means

C/C Two copies of the version the research linked to Neonatal methylmalonyl + 3-hydroxy-isovalerylcarnitine (C4DC + C5-OH) levels (maternal genotype effect). 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 Neonatal methylmalonyl + 3-hydroxy-isovalerylcarnitine (C4DC + C5-OH) levels (maternal genotype effect). That is a smaller link than two copies.
T/T No copy of the version the research linked to Neonatal methylmalonyl + 3-hydroxy-isovalerylcarnitine (C4DC + C5-OH) levels (maternal genotype effect). This is the starting point the study compared everyone against.
Source

Questions about rs1075650

What is rs1075650?

rs1075650 is a single position in the genome, in or near the IER5L gene. Published research associates it with neonatal methylmalonyl + 3-hydroxy-isovalerylcarnitine (c4dc + c5-oh) levels (maternal genotype effect). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs1075650 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 rs1075650 come from?

GWAS Catalog, Cell genomics 2024, PMID:39389019. 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.

Neonatal methylmalonyl + 3-hydroxy-isovalerylcarnitine (C4DC + C5-OH) levels (maternal genotype effect) (rs1075650). MyGeneLog™. https://www.mygenelog.com/variants/rs1075650

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