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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 v25Corneal dystrophy, Fuchs endothelial, 8
rs727504229COL8A25Corneal dystrophy, Fuchs endothelial 1
rs267607065SLC4A11Ancestry v25Corneal dystrophy, Fuchs endothelial, 4
rs869320720SLC4A115Corneal endothelial dystrophy
rs797045107SLC4A115Corneal endothelial dystrophy type 2
rs869320617SLC4A115Corneal endothelial dystrophy
rs267607066SLC4A11Ancestry v25Corneal dystrophy, Fuchs endothelial, 4
rs869320722SLC4A115Corneal dystrophy and perceptive deafness
rs267607064SLC4A11Ancestry v25Corneal dystrophy, Fuchs endothelial, 4
rs869320721SLC4A115Corneal dystrophy and perceptive deafness
rs12480307VSX1Affy GenomeWide 6
Ancestry v2
2not specified