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Keratoconus

COL5A1 · rs3118518

Where this position leads

Condition: Keratoconus

rs3118518 Condition: Keratoconus Keratoconus Condition rs3118518 rs3118518 COL5A1

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Keratoconus compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Keratoconus.
G/G Published research associates this genotype with typical/baseline likelihood of Keratoconus — no copies of the reported risk allele.
Source
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
Hardcastle AJ, Liskova P, Bykhovskaya Y, McComish BJ, Davidson AE, Inglehearn CF, Li X, Choquet H, Habeeb M, Lucas SEM, Sahebjada S, Pontikos N
and 50 more — show all
Lopez KER, Khawaja AP, Ali M, Dudakova L, Skalicka P, Van Dooren BTH, Geerards AJM, Haudum CW, Faro VL, Tenen A, Simcoe MJ, Patasova K, Yarrand D, Yin J, Siddiqui S, Rice A, Farraj LA, Chen YI, Rahi JS, Krauss RM, Theusch E, Charlesworth JC, Szczotka-Flynn L, Toomes C, Meester-Smoor MA, Richardson AJ, Mitchell PA, Taylor KD, Melles RB, Aldave AJ, Mills RA, Cao K, Chan E, Daniell MD, Wang JJ, Rotter JI, Hewitt AW, MacGregor S, Klaver CCW, Ramdas WD, Craig JE, Iyengar SK, O'Brart D, Jorgenson E, Baird PN, Rabinowitz YS, Burdon KP, Hammond CJ, Tuft SJ, Hysi PG
Communications biology · 2021 · PMID 33649486 · open access

Questions about rs3118518

What is rs3118518?

rs3118518 is a single position in the genome, in or near the COL5A1 gene. Published research associates it with keratoconus. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs3118518 linked to?

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

Does having rs3118518 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 rs3118518 come from?

GWAS Catalog, Commun Biol 2021, PMID:33649486. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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