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Diseases of sebaceous glands (PheCode 706)

CLPTM1L · rs452384

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 61,215 European ancestry cases, 337,155 European ancestry controls.

The effect Each copy of the T allele shifted the measure 0.0825 higher (95% confidence interval 0.07-0.095); p = 8 × 10−41.

How common The T allele had a frequency of about 56% in the people studied.

Where it sits Chromosome 5, band 5p15.33 — in an intron of CLPTM1L.

What each result means

C/C No copy of the version the research linked to Diseases of sebaceous glands (PheCode 706). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Diseases of sebaceous glands (PheCode 706). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Diseases of sebaceous glands (PheCode 706). 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 rs452384

What is rs452384?

rs452384 is a single position in the genome, in or near the CLPTM1L gene. Published research associates it with diseases of sebaceous glands (phecode 706). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs452384 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 rs452384 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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Diseases of sebaceous glands (PheCode 706) (rs452384). MyGeneLog™. https://www.mygenelog.com/variants/rs452384

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