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Lower gastrointestinal congenital anomalies (PheCode 750.2)

TAF1L · rs145062474

What the study found

Who was studied 276 African American or Afro-Caribbean cases, 120,756 African American or Afro-Caribbean controls, 1,013 European ancestry cases, 446,704 European ancestry controls.

The effect Each copy of the G allele shifted the measure 2.94 lower (95% confidence interval 2.91-2.97); p = 4 × 10−11.

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

Where it sits Chromosome 9, band 9p21.1 — a missense change in TAF1L.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Lower gastrointestinal congenital anomalies (PheCode 750.2) — no copies of the reported risk allele.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Lower gastrointestinal congenital anomalies (PheCode 750.2).
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Lower gastrointestinal congenital anomalies (PheCode 750.2) compared to the general population.
Source

Questions about rs145062474

What is rs145062474?

rs145062474 is a single position in the genome, in or near the TAF1L gene. Published research associates it with lower gastrointestinal congenital anomalies (phecode 750.2). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs145062474 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 rs145062474 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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Lower gastrointestinal congenital anomalies (PheCode 750.2) (rs145062474). MyGeneLog™. https://www.mygenelog.com/variants/rs145062474

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