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Congenital anomalies of face and neck (PheCode 749)

DLG2 · rs145742114

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 217 African American or Afro-Caribbean cases, 121,232 African American or Afro-Caribbean controls, 551 European ancestry cases, 449,100 European ancestry controls.

The effect Each copy of the T allele shifted the measure 1.79 lower (95% confidence interval 1.73-1.86); p = 4 × 10−11.

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

Where it sits Chromosome 11, band 11q14.1 — in an intron of DLG2.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Congenital anomalies of face and neck (PheCode 749) — no copies of the reported risk allele.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Congenital anomalies of face and neck (PheCode 749).
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Congenital anomalies of face and neck (PheCode 749) compared to the general population.
Source
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Verma A, Huffman JE, Rodriguez A, Conery M, Liu M, Ho YL, Kim Y, Heise DA, Guare L, Panickan VA, Garcon H, Linares F
and 59 more — show all
Costa L, Goethert I, Tipton R, Honerlaw J, Davies L, Whitbourne S, Cohen J, Posner DC, Sangar R, Murray M, Wang X, Dochtermann DR, Devineni P, Shi Y, Nandi TN, Assimes TL, Brunette CA, Carroll RJ, Clifford R, Duvall S, Gelernter J, Hung A, Iyengar SK, Joseph J, Kember R, Kranzler H, Kripke CM, Levey D, Luoh SW, Merritt VC, Overstreet C, Deak JD, Grant SFA, Polimanti R, Roussos P, Shakt G, Sun YV, Tsao N, Venkatesh S, Voloudakis G, Justice A, Begoli E, Ramoni R, Tourassi G, Pyarajan S, Tsao P, O'Donnell CJ, Muralidhar S, Moser J, Casas JP, Bick AG, Zhou W, Cai T, Voight BF, Cho K, Gaziano JM, Madduri RK, Damrauer S, Liao KP
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access

Questions about rs145742114

What is rs145742114?

rs145742114 is a single position in the genome, in or near the DLG2 gene. Published research associates it with congenital anomalies of face and neck (phecode 749). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs145742114 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 rs145742114 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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Congenital anomalies of face and neck (PheCode 749) (rs145742114). MyGeneLog™. https://www.mygenelog.com/variants/rs145742114

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