RS146737847 SIX6

Health Risk Chr 14:60509783
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What This Variant Does
"Exome sequencing and functional analyses suggest SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age"
Associated Conditions
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anophthalmia-microphthalmia syndrome
SIX6-related disorder
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anophthalmia-microphthalmia syndrome
SIX6-related disorder
GWAS Studies (5)
Trait Risk Allele OR / Beta P-value Study
Retinal thickness (pixel 112_248) A OR: 2.15 5E-17 PubMed
Refractive error A OR: 0.3 2E-16 PubMed
Retinal thickness (functional principal component 4) A OR: 89.06 2E-11 PubMed
Low myopia vs hyperopia — OR: 0.71 1E-7 PubMed
High myopia — OR: 0.69 1E-7 PubMed
Other Variants in SIX6
rs786205142 rs786204851 rs200537449 rs368912930 rs140601427 rs770759922 rs45549246 rs1594631582 rs201560655 rs748077751
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