Genetics of Keratoconus: Where Do We Stand?

Table 3

Common VSX1 variants reported in patients with keratoconus.

SNP ID	Amino acid change	Clinical significance	Population	Reference
rs74315436	Leu17Pro	Pathogenic	European	[51, 55]
rs6050307	Arg131Ser	Pathogenic	Han Chinese	[54]
rs140122268	Asp144Glu	Unknown	European	[56]
rs74315434	Leu150Met	Unknown	Canadian, Americans, and European	[49, 51, 60]
rs74315433	Gly160Asp	Pathogenic	European	[55, 56]
—	Gly160Val	Pathogenic	Korean	[57]
rs74315432	Arg166Trp	Pathogenic	Canadian, Iranian	[49, 52]
rs148957473	His244Arg	Unknown	Canadian, Americans, and Iranian	[49, 52, 60]
VAR_014248	Pro247Arg	Unknown	Canadian, European	[49, 55]