Standard
Optic cup area
DDHD1 · rs2251069
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 each result means
C/C
Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Optic cup area compared to the general population.
C/T
Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Optic cup area.
T/T
Published research associates this genotype with typical/baseline likelihood of Optic cup area — no copies of the reported risk allele.
Source
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics
Springelkamp H,
Iglesias AI,
Mishra A,
Höhn R,
Wojciechowski R,
Khawaja AP,
Nag A,
Wang YX,
Wang JJ,
Cuellar-Partida G,
Gibson J,
Bailey JN
and 71 more — show all
Vithana EN,
Gharahkhani P,
Boutin T,
Ramdas WD,
Zeller T,
Luben RN,
Yonova-Doing E,
Viswanathan AC,
Yazar S,
Cree AJ,
Haines JL,
Koh JY,
Souzeau E,
Wilson JF,
Amin N,
Müller C,
Venturini C,
Kearns LS,
Kang JH,
Tham YC,
Zhou T,
van Leeuwen EM,
Nickels S,
Sanfilippo P,
Liao J,
van der Linde H,
Zhao W,
van Koolwijk LM,
Zheng L,
Rivadeneira F,
Baskaran M,
van der Lee SJ,
Perera S,
de Jong PT,
Oostra BA,
Uitterlinden AG,
Fan Q,
Hofman A,
Tai ES,
Vingerling JR,
Sim X,
Wolfs RC,
Teo YY,
Lemij HG,
Khor CC,
Willemsen R,
Lackner KJ,
Aung T,
Jansonius NM,
Montgomery G,
Wild PS,
Young TL,
Burdon KP,
Hysi PG,
Pasquale LR,
Wong TY,
Klaver CC,
Hewitt AW,
Jonas JB,
Mitchell P,
Lotery AJ,
Foster PJ,
Vitart V,
Pfeiffer N,
Craig JE,
Mackey DA,
Hammond CJ,
Wiggs JL,
Cheng CY,
van Duijn CM,
MacGregor S
Human molecular genetics · 2017 · PMID 28073927
Questions about rs2251069
What is rs2251069?
rs2251069 is a single position in the genome, in or near the DDHD1 gene. Published research associates it with optic cup area. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs2251069 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 rs2251069 come from?
GWAS Catalog, Hum Mol Genet 2017, PMID:28073927. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
← See all variants