Gene Knowledge Graph
UTC
Standard

Vertical cup-disc ratio

TMTC2 · rs324780

Where this position leads

Condition: Glaucoma

rs324780 Condition: Glaucoma Glaucoma Condition rs324780 rs324780 TMTC2

What the study found

Who was studied 21,768 European ancestry individuals, 2,131 Erasmus Rucphen (founder/genetic isolate) individuals; replicated in 8,168 Asian ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.011 lower (95% confidence interval 0.009-0.013); p = 7 × 10−23.

Where it sits Chromosome 12, band 12q21.31 — between genes, 137.7 kb from LOC105369874.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Vertical cup-disc ratio — no copies of the reported risk allele.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Vertical cup-disc ratio.
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Vertical cup-disc ratio compared to the general population.
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
NEIGHBORHOOD Consortium
Human molecular genetics · 2017 · PMID 28073927

Questions about rs324780

What is rs324780?

rs324780 is a single position in the genome, in or near the TMTC2 gene. Published research associates it with vertical cup-disc ratio. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs324780 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 rs324780 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 rs324780 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