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: 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: 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: 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: rs121909208
rs121909208
0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
Groenouw corneal dystrophy type I (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.850 1.000 6 2002 2019
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
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
Corneal Dystrophy, Lattice Type IIIA
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.830 0.800 5 1998 2011
dbSNP: rs121909216
rs121909216
0.882 0.200 5 136055795 missense variant T/G snv
Corneal dystrophy, epithelial basement membrane
Eye Diseases; Nervous System Diseases; Cardiovascular Diseases 0.810 1.000 2 2006 2011
dbSNP: rs121909214
rs121909214
1.000 0.080 5 136056736 missense variant T/C snv
Corneal Dystrophy, Lattice Type IIIA
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 2 1998 2005
dbSNP: rs121909210
rs121909210
0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
Groenouw corneal dystrophy type I (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2005 2005
dbSNP: rs121909217
rs121909217
1.000 0.120 5 136062674 missense variant G/A;C snv 1.2E-03
Corneal dystrophy, epithelial basement membrane
Eye Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 2006 2006
dbSNP: rs267607109
rs267607109
0.827 0.160 5 136056754 missense variant C/A snv
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.740 0.923 13 1998 2017
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: rs267607110
rs267607110
0.851 0.160 5 136056769 missense variant C/A snv
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.720 0.909 11 1998 2014
dbSNP: rs121909215
rs121909215
0.790 0.200 5 136060898 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 0.720 1.000 2 2001 2010
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: 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
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: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1998 2016
dbSNP: rs13159365
rs13159365
5 136053744 intron variant C/T snv 0.39
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs13168506
rs13168506
5 136060763 intron variant A/G snv 0.57
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs17689879
rs17689879
5 136057449 intron variant C/G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
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: 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: 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: rs121909210
rs121909210
0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
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