Gene Knowledge Graph
UTC
Standard

Ulcer of esophagus (PheCode 530.12)

near TPM1-AS · rs550175327

Where this position leads

Condition: Ulcer of Esophagus

rs550175327 Condition: Ulcer of Esophagus Ulcer of Esophagus Condition rs550175327 rs550175327 near TPM1-AS

What the study found

Who was studied 254 African American or Afro-Caribbean cases, 121,164 African American or Afro-Caribbean controls, 2,694 European ancestry cases, 444,824 European ancestry controls, 216 Hispanic or Latin American cases, 59,353 Hispanic or Latin American controls.

The effect Each copy of the G allele shifted the measure 3.54 lower (95% confidence interval 3.52-3.56); p = 4 × 10−11.

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

Where it sits Chromosome 15, band 15q22.2 — between genes, 61 kb from TPM1-AS.

What each result means

A/A No copy of the version the research linked to Ulcer of esophagus (PheCode 530.12). This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Ulcer of esophagus (PheCode 530.12). That is a smaller link than two copies.
G/G Two copies of the version the research linked to Ulcer of esophagus (PheCode 530.12). That is the strongest link of the three results. A link in a study is not a diagnosis.
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 rs550175327

What is rs550175327?

rs550175327 is a single position in the genome, in or near the near TPM1-AS gene. Published research associates it with ulcer of esophagus (phecode 530.12). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs550175327 linked to?

On MyGeneLog this position is linked to Ulcer of Esophagus. The research behind each link, and its sources, are set out on that condition page.

Does having rs550175327 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 rs550175327 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

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.

Ulcer of esophagus (PheCode 530.12) (rs550175327). MyGeneLog™. https://www.mygenelog.com/variants/rs550175327

← See all variants