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: rs756463
rs756463 		5 136032068 intron variant C/T snv 0.31
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs757933370
rs757933370 		0.925 0.080 5 136046373 missense variant G/A;T snv 1.5E-04; 4.0E-06
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs757933370
rs757933370 		0.925 0.080 5 136046373 missense variant G/A;T snv 1.5E-04; 4.0E-06
CUI: C0544848
Disease: Dystrophy, granular
Dystrophy, granular 		0.010 1.000 1 2006 2006
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: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.900 0.969 32 1998 2019
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-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 0.100 0.917 12 1999 2017
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.070 1.000 7 1998 2019
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.040 1.000 4 2000 2010
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0339278
Disease: Reis-Bucklers' corneal dystrophy
Reis-Bucklers' corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.030 1.000 3 1998 2010
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: 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: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1562894
Disease: Thiel-Behnke corneal dystrophy
Thiel-Behnke corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2009 2012
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2008 2008
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-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: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0152194
Disease: Irregular astigmatism
Irregular astigmatism 		Eye Diseases 0.010 1.000 1 2009 2009
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: 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: C0162281
Disease: Corneal deposit
Corneal deposit 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
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: rs121909211
rs121909211 		0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.900 1.000 29 1998 2019
dbSNP: rs121909211
rs121909211 		0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.100 1.000 13 1998 2019
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: rs121909211
rs121909211 		0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C0339278
Disease: Reis-Bucklers' corneal dystrophy
Reis-Bucklers' corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.880 1.000 10 1998 2019
dbSNP: rs121909211
rs121909211 		0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C0544848
Disease: Dystrophy, granular
Dystrophy, granular 		0.040 1.000 4 1998 2007
dbSNP: rs121909211
rs121909211 		0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.040 1.000 4 2000 2011