Normal allele: GG
Breakage related to the thickness of the central cornea of the eye and keratoconus.
Polymorphism rs1536482 is related to topics like this:
Research and publications:
20719862 New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.
22605921 Genome-wide association study of primary open angle glaucoma risk and quantitative traits.
25254113 Genetics of keratoconus: where do we stand?
26690118 An Updated Review on the Genetics of Primary Open Angle Glaucoma.
27350955 Genetics in Keratoconus: where are we?
28207827 Replication of SNP associations with keratoconus in a Czech cohort.
28676647 Genetic associations for keratoconus: a systematic review and meta-analysis.
30816092 [Search for genetic markers for precise diagnostics of keratoconus].