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Vertical cup-disc ratio

EXOC2 · rs17756712

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 18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals; replicated in 2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.01 higher (95% confidence interval 0.0061-0.0139); p = 1 × 10−9.

Where it sits Chromosome 6, band 6p25.3 — in an intron of EXOC2.

What each result means

A/A No copy of the version the research linked to Vertical cup-disc ratio. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Vertical cup-disc ratio. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Vertical cup-disc ratio. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, Bailey JN, Gibson J, Thorleifsson G, Janssen SF, Luo X, Ramdas WD
and 66 more — show all
Vithana E, Nongpiur ME, Montgomery GW, Xu L, Mountain JE, Gharahkhani P, Lu Y, Amin N, Karssen LC, Sim KS, van Leeuwen EM, Iglesias AI, Verhoeven VJ, Hauser MA, Loon SC, Despriet DD, Nag A, Venturini C, Sanfilippo PG, Schillert A, Kang JH, Landers J, Jonasson F, Cree AJ, van Koolwijk LM, Rivadeneira F, Souzeau E, Jonsson V, Menon G, Weinreb RN, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A, Ennis S, Thorsteinsdottir U, Burdon KP, Spector TD, Mirshahi A, Saw SM, Vingerling JR, Teo YY, Haines JL, Wolfs RC, Lemij HG, Tai ES, Jansonius NM, Jonas JB, Cheng CY, Aung T, Viswanathan AC, Klaver CC, Craig JE, Macgregor S, Mackey DA, Lotery AJ, Stefansson K, Bergen AA, Young TL, Wiggs JL, Pfeiffer N, Wong TY, Pasquale LR, Hewitt AW, van Duijn CM, Hammond CJ
Blue Mountains Eye Study—GWAS group · NEIGHBORHOOD Consortium · Wellcome Trust Case Control Consortium 2 (WTCCC2)
Nature communications · 2014 · PMID 25241763 · open access

Questions about rs17756712

What is rs17756712?

rs17756712 is a single position in the genome, in or near the EXOC2 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.

Does having rs17756712 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 rs17756712 come from?

GWAS Catalog, Nature communications 2014, PMID:25241763. 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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Vertical cup-disc ratio (rs17756712). MyGeneLog™. https://www.mygenelog.com/variants/rs17756712

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