Normal allele: TT
The common variant GRCh38 are associated with increased predisposition to optic nerve degeneration (association with vertical ratio of the calyx to optic disc) in glaucoma.
Polymorphism rs10483727 is related to topics like this:
Research and publications:
20548946 A genome-wide association study of optic disc parameters.
22605921 Genome-wide association study of primary open angle glaucoma risk and quantitative traits.
24002674 Genome-wide association study and meta-analysis of intraocular pressure.
24875647 Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.
25027321 Genome-wide association and admixture analysis of glaucoma from the Women's Health Initiative.
25097799 Developments in Ocular Genetics: 2013 Annual Review.
25173105 Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
25242315 Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study.
25525164 Exome array analysis identifies CAV1/CAV2 as a susceptibility locus for intraocular pressure.
26690118 An Updated Review on the Genetics of Primary Open Angle Glaucoma.
27707548 Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study.
28347358 Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.
28499933 Major review: Molecular genetics of primary open-angle glaucoma.
30586556 Association of the SIX6 locus with primary open angle glaucoma in southern Chinese and Japanese.
31284308 Association of Polymorphisms at the SIX1-SIX6 Locus With Primary Open-Angle Glaucoma.
31436842 Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.
31632126 Genetic Analysis Of ABCA1 Gene Of Primary Glaucoma In Jordanian Arab Population.
32545285 The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.
32719476 Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism.
33396423 Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations.
33605984 The Role of Genetic Ancestry as a Risk Factor for Primary Open-angle Glaucoma in African Americans.
34840687 Prevalence Rates and Risk Factors for Primary Open Angle Glaucoma in the Middle East.
35566612 Asian Race and Primary Open-Angle Glaucoma: Where Do We Stand?