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Glaucoma

CDKN2B-AS1 · rs7030641

Where this position leads

Condition: Glaucoma

rs7030641 Condition: Glaucoma Glaucoma Condition rs7030641 rs7030641 CDKN2B-AS1

What the study found

Who was studied 81,303 European ancestry cases, 349,418 European ancestry controls.

The effect Each copy of the C allele shifted the measure 0.131 lower (95% confidence interval 0.12-0.14); p = 3 × 10−140.

How common The C allele had a frequency of about 43% in the people studied.

Where it sits Chromosome 9, band 9p21.3 — in an intron of CDKN2B-AS1.

What each result means

C/C Two copies of the version the research linked to Glaucoma. 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 Glaucoma. That is a smaller link than two copies.
T/T No copy of the version the research linked to Glaucoma. This is the starting point the study compared everyone against.
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 rs7030641

What is rs7030641?

rs7030641 is a single position in the genome, in or near the CDKN2B-AS1 gene. Published research associates it with glaucoma. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs7030641 linked to?

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

Does having rs7030641 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 rs7030641 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.

Glaucoma (rs7030641). MyGeneLog™. https://www.mygenelog.com/variants/rs7030641

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