VSX1, visual system homeobox 1, 30813

N. diseases: 95; N. variants: 18
Disease: Polymorphous corneal dystrophy ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs148957473
rs148957473 		0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs369865672
rs369865672 		1.000 0.080 20 25081924 missense variant G/A snv 8.8E-04 8.6E-04
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs74315433
rs74315433 		0.882 0.080 20 25079460 missense variant C/A;T snv 1.0E-03; 1.9E-03
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005