rs121909210
|
0.708 |
0.200 |
5 |
136046406 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Lattice corneal dystrophy Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.900 |
0.969 |
32 |
1998 |
2019 |
rs121909211
|
0.724 |
0.200 |
5 |
136046407 |
missense variant |
G/A;T
|
snv
|
4.0E-05
|
|
Avellino corneal dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.900 |
1.000 |
29 |
1998 |
2019 |
rs121909211
|
0.724 |
0.200 |
5 |
136046407 |
missense variant |
G/A;T
|
snv
|
4.0E-05
|
|
Corneal dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.100 |
1.000 |
13 |
1998 |
2019 |
rs121909211
|
0.724 |
0.200 |
5 |
136046407 |
missense variant |
G/A;T
|
snv
|
4.0E-05
|
|
Granular Dystrophy, Corneal
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.100 |
1.000 |
13 |
1998 |
2017 |
rs267607109
|
0.827 |
0.160 |
5 |
136056754 |
missense variant |
C/A
|
snv
|
|
|
Lattice corneal dystrophy Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.740 |
0.923 |
13 |
1998 |
2017 |
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 |
rs267607110
|
0.851 |
0.160 |
5 |
136056769 |
missense variant |
C/A
|
snv
|
|
|
Lattice corneal dystrophy Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.720 |
0.909 |
11 |
1998 |
2014 |
rs121909211
|
0.724 |
0.200 |
5 |
136046407 |
missense variant |
G/A;T
|
snv
|
4.0E-05
|
|
Reis-Bucklers' corneal dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.880 |
1.000 |
10 |
1998 |
2019 |
rs121909215
|
0.790 |
0.200 |
5 |
136060898 |
missense variant |
G/A
|
snv
|
|
|
Lattice corneal dystrophy Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
1.000 |
9 |
1998 |
2006 |
rs121909210
|
0.708 |
0.200 |
5 |
136046406 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Corneal dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.070 |
1.000 |
7 |
1998 |
2019 |
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
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
1.000 |
7 |
1998 |
2016 |
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 |
rs1050842080
|
0.925 |
0.160 |
5 |
136056697 |
missense variant |
T/G
|
snv
|
|
|
Lattice corneal dystrophy Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.740 |
1.000 |
4 |
2000 |
2010 |
rs1052006472
|
0.827 |
0.200 |
5 |
136060907 |
missense variant |
A/G
|
snv
|
|
|
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 |
rs121909209
|
0.763 |
0.160 |
5 |
136056781 |
missense variant |
G/A
|
snv
|
|
|
Corneal dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.040 |
1.000 |
4 |
2000 |
2007 |
rs121909209
|
0.763 |
0.160 |
5 |
136056781 |
missense variant |
G/A
|
snv
|
|
|
Reis-Bucklers' corneal dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.040 |
1.000 |
4 |
1998 |
2012 |
rs121909209
|
0.763 |
0.160 |
5 |
136056781 |
missense variant |
G/A
|
snv
|
|
|
Thiel-Behnke corneal dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.840 |
1.000 |
4 |
2007 |
2012 |
rs121909210
|
0.708 |
0.200 |
5 |
136046406 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Avellino corneal dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.040 |
1.000 |
4 |
2000 |
2010 |
rs121909211
|
0.724 |
0.200 |
5 |
136046407 |
missense variant |
G/A;T
|
snv
|
4.0E-05
|
|
Dystrophy, granular
|
|
0.040 |
1.000 |
4 |
1998 |
2007 |
rs121909211
|
0.724 |
0.200 |
5 |
136046407 |
missense variant |
G/A;T
|
snv
|
4.0E-05
|
|
Lattice corneal dystrophy Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.040 |
1.000 |
4 |
2000 |
2011 |
rs267607109
|
0.827 |
0.160 |
5 |
136056754 |
missense variant |
C/A
|
snv
|
|
|
Corneal dystrophy, Lattice type 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases
|
0.040 |
0.750 |
4 |
2004 |
2007 |
rs267607109
|
0.827 |
0.160 |
5 |
136056754 |
missense variant |
C/A
|
snv
|
|
|
Familial Amyloid Polyneuropathy, Type V
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.040 |
1.000 |
4 |
2004 |
2017 |
rs267607109
|
0.827 |
0.160 |
5 |
136056754 |
missense variant |
C/A
|
snv
|
|
|
Amyloid of cornea
|
|
0.040 |
0.750 |
4 |
2004 |
2007 |
rs1050842080
|
0.925 |
0.160 |
5 |
136056697 |
missense variant |
T/G
|
snv
|
|
|
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 |
rs121909210
|
0.708 |
0.200 |
5 |
136046406 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Reis-Bucklers' corneal dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.030 |
1.000 |
3 |
1998 |
2010 |