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Folate-deficiency anemia (PheCode 281.13)

KCNIP4 · rs148603992

Where this position leads

Condition: Folate-deficiency Anemia

rs148603992 Condition: Folate-deficiency Anemia Folate-deficiency Anemia Condition rs148603992 rs148603992 KCNIP4

What the study found

Who was studied 450 African American or Afro-Caribbean cases, 120,910 African American or Afro-Caribbean controls, 903 European ancestry cases, 449,159 European ancestry controls.

The effect Each copy of the C allele shifted the measure 3 lower (95% confidence interval 2.97-3.03); p = 1 × 10−12.

How common The C allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 4, band 4p15.2 — in an intron of KCNIP4.

What each result means

C/C Two copies of the version the research linked to Folate-deficiency anemia (PheCode 281.13). 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 Folate-deficiency anemia (PheCode 281.13). That is a smaller link than two copies.
T/T No copy of the version the research linked to Folate-deficiency anemia (PheCode 281.13). This is the starting point the study compared everyone against.
Source

Questions about rs148603992

What is rs148603992?

rs148603992 is a single position in the genome, in or near the KCNIP4 gene. Published research associates it with folate-deficiency anemia (phecode 281.13). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs148603992 linked to?

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

Does having rs148603992 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 rs148603992 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. 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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Folate-deficiency anemia (PheCode 281.13) (rs148603992). MyGeneLog™. https://www.mygenelog.com/variants/rs148603992

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