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: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2000 2000
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: rs121909211
rs121909211 		0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121909211
rs121909211 		0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C0038457
Disease: Stromal Dystrophies, Corneal
Stromal Dystrophies, Corneal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121909212
rs121909212 		0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121909212
rs121909212 		0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05
CUI: C0339273
Disease: Corneal dystrophy, Lattice type 3
Corneal dystrophy, Lattice type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0544848
Disease: Dystrophy, granular
Dystrophy, granular 		0.020 1.000 2 2001 2002
dbSNP: rs1052006472
rs1052006472 		0.827 0.200 5 136060907 missense variant A/G snv
CUI: C0544848
Disease: Dystrophy, granular
Dystrophy, granular 		0.010 1.000 1 2002 2002
dbSNP: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C0392163
Disease: Corneal erosion
Corneal erosion 		Infections; Eye Diseases 0.010 1.000 1 2002 2002
dbSNP: rs121909209
rs121909209 		0.763 0.160 5 136056781 missense variant G/A snv
CUI: C0544848
Disease: Dystrophy, granular
Dystrophy, granular 		0.010 1.000 1 2002 2002
dbSNP: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C0544848
Disease: Dystrophy, granular
Dystrophy, granular 		0.030 1.000 3 2001 2003
dbSNP: rs1052006472
rs1052006472 		0.827 0.200 5 136060907 missense variant A/G snv
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2003 2003
dbSNP: rs1052006472
rs1052006472 		0.827 0.200 5 136060907 missense variant A/G snv
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2003 2003
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
dbSNP: rs1204100257
rs1204100257 		0.925 0.160 5 136046453 synonymous variant C/T snv 2.4E-05 7.0E-05
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0339273
Disease: Corneal dystrophy, Lattice type 3
Corneal dystrophy, Lattice type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C2939149
Disease: Amyloid of cornea
Amyloid of cornea 		0.010 < 0.001 1 2004 2004
dbSNP: rs267607110
rs267607110 		0.851 0.160 5 136056769 missense variant C/A snv
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs267607110
rs267607110 		0.851 0.160 5 136056769 missense variant C/A snv
CUI: C0339273
Disease: Corneal dystrophy, Lattice type 3
Corneal dystrophy, Lattice type 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs267607110
rs267607110 		0.851 0.160 5 136056769 missense variant C/A snv
CUI: C2939149
Disease: Amyloid of cornea
Amyloid of cornea 		0.010 < 0.001 1 2004 2004
dbSNP: rs121909214
rs121909214 		1.000 0.080 5 136056736 missense variant T/C snv
CUI: C1837974
Disease: Corneal Dystrophy, Lattice Type IIIA
Corneal Dystrophy, Lattice Type IIIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 1998 2005
dbSNP: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C0339278
Disease: Reis-Bucklers' corneal dystrophy
Reis-Bucklers' corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1641846
Disease: Groenouw corneal dystrophy type I (disorder)
Groenouw corneal dystrophy type I (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2005 2005
dbSNP: rs121909215
rs121909215 		0.790 0.200 5 136060898 missense variant G/A snv
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121909215
rs121909215 		0.790 0.200 5 136060898 missense variant G/A snv
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 9 1998 2006