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: rs1050842080
rs1050842080 		0.925 0.160 5 136056697 missense variant T/G snv
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.740 1.000 4 2000 2010
dbSNP: rs1050842080
rs1050842080 		0.925 0.160 5 136056697 missense variant T/G 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 0.030 1.000 3 2001 2010
dbSNP: rs1052006472
rs1052006472 		0.827 0.200 5 136060907 missense variant A/G 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 0.040 1.000 4 2003 2017
dbSNP: rs1052006472
rs1052006472 		0.827 0.200 5 136060907 missense variant A/G snv
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2002 2010
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: 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: rs1204100257
rs1204100257 		0.925 0.160 5 136046453 synonymous variant C/T snv 2.4E-05 7.0E-05
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010
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: 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: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.070 1.000 7 2000 2015
dbSNP: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-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 0.850 1.000 6 2002 2019
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: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2005 2015
dbSNP: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C0162281
Disease: Corneal deposit
Corneal deposit 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.020 1.000 2 2003 2017
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: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
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 2012 2012
dbSNP: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C4700127
Disease: Thiel-behnke
Thiel-behnke 		0.010 1.000 1 2007 2007
dbSNP: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C1562894
Disease: Thiel-Behnke corneal dystrophy
Thiel-Behnke corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2015 2015
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: 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: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C1837974
Disease: Corneal Dystrophy, Lattice Type IIIA
Corneal Dystrophy, Lattice Type IIIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121909209
rs121909209 		0.763 0.160 5 136056781 missense variant G/A snv
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.040 1.000 4 2000 2007
dbSNP: rs121909209
rs121909209 		0.763 0.160 5 136056781 missense variant G/A snv
CUI: C0339278
Disease: Reis-Bucklers' corneal dystrophy
Reis-Bucklers' corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.040 1.000 4 1998 2012
dbSNP: rs121909209
rs121909209 		0.763 0.160 5 136056781 missense variant G/A snv
CUI: C1562894
Disease: Thiel-Behnke corneal dystrophy
Thiel-Behnke corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.840 1.000 4 2007 2012