rs121965019
|
0.851 |
0.120 |
4 |
1002747 |
stop gained |
G/A
|
snv
|
5.9E-04
|
8.4E-04
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
1992 |
2018 |
rs121965020
|
0.827 |
0.280 |
4 |
987858 |
stop gained |
C/T
|
snv
|
4.7E-04
|
6.1E-04
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
5 |
1992 |
2018 |
rs121965021
|
0.807 |
0.320 |
4 |
1003418 |
missense variant |
C/G;T
|
snv
|
5.6E-05
|
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
8 |
1993 |
2011 |
rs148789453
|
0.882 |
0.120 |
4 |
1001802 |
missense variant |
T/A;G
|
snv
|
2.2E-05;
4.4E-06
|
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.720 |
1.000 |
2 |
2014 |
2019 |
rs369090960
|
1.000 |
0.120 |
4 |
1001982 |
missense variant |
G/A;C
|
snv
|
2.1E-05;
5.2E-06
|
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
8 |
1993 |
2011 |
rs762903007
|
0.882 |
0.120 |
4 |
1002435 |
missense variant |
A/G
|
snv
|
1.8E-05
|
7.0E-06
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
8 |
1993 |
2011 |
rs772416503
|
0.882 |
0.120 |
4 |
1003120 |
missense variant |
C/G;T
|
snv
|
1.4E-05
|
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
8 |
1993 |
2011 |
rs121965029
|
0.851 |
0.120 |
4 |
987916 |
missense variant |
G/A
|
snv
|
9.2E-06
|
7.0E-06
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs750496798
|
1.000 |
0.120 |
4 |
1002383 |
missense variant |
C/T
|
snv
|
8.3E-06
|
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
8 |
1993 |
2011 |
rs121965031
|
0.882 |
0.120 |
4 |
1004286 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06;
8.1E-06
|
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
8 |
1993 |
2011 |
rs794727239
|
1.000 |
0.120 |
4 |
987895 |
missense variant |
A/C
|
snv
|
4.2E-06
|
7.0E-06
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs747981483
|
1.000 |
0.120 |
4 |
987886 |
missense variant |
C/T
|
snv
|
4.2E-06
|
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121965033
|
0.925 |
0.120 |
4 |
1002333 |
missense variant |
T/C;G
|
snv
|
4.0E-06
|
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
8 |
1993 |
2011 |
rs200448421
|
1.000 |
0.120 |
4 |
1004314 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06;
4.0E-06;
4.0E-06
|
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121965027
|
0.882 |
0.120 |
4 |
1003102 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
8 |
1993 |
2011 |
rs1281475543
|
1.000 |
0.120 |
4 |
1004307 |
missense variant |
T/A
|
snv
|
|
7.0E-06
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
8 |
1993 |
2011 |
rs121965032
|
0.882 |
0.120 |
4 |
1002387 |
missense variant |
C/T
|
snv
|
|
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs387906504
|
0.925 |
0.120 |
4 |
1004391 |
stop lost |
T/G
|
snv
|
|
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs931627770
|
0.925 |
0.120 |
4 |
1002811 |
missense variant |
C/A;T
|
snv
|
|
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs992336192
|
1.000 |
0.120 |
4 |
1001506 |
missense variant |
G/A;C
|
snv
|
|
|
Hurler-Scheie Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|