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Corneal dystrophy

From SNPedia

At a minimum, these SNPs are known to be related, and others may also be

 Max Magnitude

Corneal dystrophy refers to a group of relatively rare hereditary disorders characterised by abnormal deposits on the cornea. There are over 20 types of corneal dystrophies, usually manifesting themselves during the first or second decade but sometimes later. Individuals with corneal dystrophies are among the types of patients not recommended for [Lasik]] surgeries.[1]

Most corneal dystrophies are inherited as autosomal dominant conditions, including the most common form, keratoconus. Another type of corneal dystrophy, the Avellino type, is associated with mutations in the keratoepithelin TGFBI gene.

The following table shows SNPs along with their associated genes and clinical conditions:

 In geneOn microarrayClinVar CLNSIGClinVar CLNDBN
rs185919705AGBL1Ancestry v25Corneal dystrophy, Fuchs endothelial, 8
rs181958589AGBL1Ancestry v2
23andMe v5
5Corneal dystrophy, Fuchs endothelial, 8
rs80358191COL8A25Corneal dystrophy, Fuchs endothelial 1
Corneal dystrophy, posterior polymorphous, 2
rs80358192COL8A25Corneal dystrophy, Fuchs endothelial 1
Corneal dystrophy, posterior polymorphous, 2
rs727504229COL8A25Corneal dystrophy, Fuchs endothelial 1
rs797045107SLC4A115Corneal endothelial dystrophy type 2
rs121909391SLC4A11Ancestry v25Corneal endothelial dystrophy
rs869320720SLC4A115Corneal endothelial dystrophy
rs121909396SLC4A115Corneal dystrophy and perceptive deafness
rs121909387SLC4A11Ancestry v25Corneal endothelial dystrophy
rs869320617SLC4A115Corneal endothelial dystrophy
rs121909392SLC4A11Ancestry v25Corneal endothelial dystrophy
rs267607066SLC4A11Ancestry v25Corneal dystrophy, Fuchs endothelial, 4
rs121909388SLC4A11Ancestry v25Corneal endothelial dystrophy
rs869320722SLC4A115Corneal dystrophy and perceptive deafness
rs121909393SLC4A11Ancestry v25Corneal dystrophy and perceptive deafness
rs267607064SLC4A11Ancestry v25Corneal dystrophy, Fuchs endothelial, 4
rs121909389SLC4A11Ancestry v25Corneal endothelial dystrophy
rs869320721SLC4A115Corneal dystrophy and perceptive deafness
rs121909394SLC4A11Ancestry v25Corneal dystrophy and perceptive deafness
rs267607065SLC4A11Ancestry v25Corneal dystrophy, Fuchs endothelial, 4
rs121909390SLC4A11Ancestry v25Corneal endothelial dystrophy
rs121909395SLC4A11Ancestry v25Corneal dystrophy and perceptive deafness
rs121909212TGFBI5Lattice corneal dystrophy type 3A
rs121909217TGFBI5Corneal epithelial dystrophy
rs121909208TGFBIAncestry v25Groenouw corneal dystrophy type I
rs121909213TGFBI5Reis-Bucklers' corneal dystrophy
rs267607109TGFBIAncestry v25Lattice corneal dystrophy Type I
rs121909209TGFBIAncestry v25Thiel-Behnke corneal dystrophy
rs121909214TGFBIAncestry v25Lattice corneal dystrophy type 3A
rs267607110TGFBIAncestry v25Lattice corneal dystrophy Type I
rs121909210TGFBI5Groenouw corneal dystrophy type I
Lattice corneal dystrophy Type I
rs121909215TGFBIAncestry v25Reis-Bucklers' corneal dystrophy
rs121909211TGFBI5Avellino corneal dystrophy
Reis-Bucklers' corneal dystrophy
rs121909216TGFBIAncestry v25Corneal epithelial dystrophy
rs74315435VSX15Craniofacial anomalies and anterior segment dysgenesis syndrome
rs74315436VSX1Ancestry v25Keratoconus 1
Posterior Polymorphous Corneal Dystrophy
rs74315432VSX1Ancestry v2
23andMe v5
5Keratoconus 1
rs74315433VSX13Posterior Polymorphous Corneal Dystrophy
Posterior polymorphous corneal dystrophy 1
not specified
rs12480307VSX1Affy GenomeWide 6
Ancestry v2
2not specified
Posterior Polymorphous Corneal Dystrophy
rs6050307VSX12Posterior Polymorphous Corneal Dystrophy
rs80194531ZEB1Ancestry v25Corneal dystrophy, Fuchs endothelial, 6
rs118020901ZEB1Ancestry v25Corneal dystrophy, Fuchs endothelial, 6
Polymorphous posterior corneal dystrophy
Visual loss