Disease: Granular Dystrophy, Corneal ×
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: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C0018179
Disease: Granular Dystrophy, Corneal
Granular Dystrophy, Corneal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.100 1.000 18 1998 2017
dbSNP: rs121909211
rs121909211 		0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C0018179
Disease: Granular Dystrophy, Corneal
Granular Dystrophy, Corneal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.100 1.000 13 1998 2017
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0018179
Disease: Granular Dystrophy, Corneal
Granular Dystrophy, Corneal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2005 2015
dbSNP: rs121909209
rs121909209 		0.763 0.160 5 136056781 missense variant G/A snv
CUI: C0018179
Disease: Granular Dystrophy, Corneal
Granular Dystrophy, Corneal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs541270955
rs541270955 		1.000 0.080 5 136046403 missense variant G/C snv 1.3E-04 3.5E-05
CUI: C0018179
Disease: Granular Dystrophy, Corneal
Granular Dystrophy, Corneal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2003 2003