rs73148102
|
|
|
7 |
65973877 |
intron variant |
G/A
|
snv
|
|
0.14
|
Vital capacity
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs73148102
|
|
|
7 |
65973877 |
intron variant |
G/A
|
snv
|
|
0.14
|
Body Height
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs121918172
|
1.000 |
0.120 |
7 |
65960997 |
missense variant |
G/A
|
snv
|
3.2E-05
|
3.5E-05
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.810 |
1.000 |
14 |
1991 |
2003 |
rs121918181
|
0.882 |
0.120 |
7 |
65979782 |
missense variant |
G/A
|
snv
|
5.6E-05
|
7.0E-05
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.820 |
1.000 |
14 |
1991 |
2003 |
rs121918173
|
0.925 |
0.280 |
7 |
65974626 |
missense variant |
G/A
|
snv
|
2.0E-05
|
1.4E-05
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
13 |
1991 |
2003 |
rs121918174
|
1.000 |
0.120 |
7 |
65979477 |
missense variant |
G/A
|
snv
|
2.0E-05
|
7.0E-06
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
13 |
1991 |
2003 |
rs121918175
|
1.000 |
0.120 |
7 |
65974923 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
13 |
1991 |
2003 |
rs121918176
|
1.000 |
0.120 |
7 |
65961022 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
13 |
1991 |
2003 |
rs121918177
|
1.000 |
0.120 |
7 |
65979866 |
missense variant |
G/A
|
snv
|
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
13 |
1991 |
2003 |
rs121918178
|
1.000 |
0.120 |
7 |
65967900 |
missense variant |
T/C
|
snv
|
4.1E-06
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
13 |
1991 |
2003 |
rs121918182
|
1.000 |
0.120 |
7 |
65974934 |
missense variant |
C/G;T
|
snv
|
3.2E-05
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
13 |
1991 |
2003 |
rs121918183
|
1.000 |
0.120 |
7 |
65964382 |
missense variant |
C/A
|
snv
|
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
13 |
1991 |
2003 |
rs121918184
|
1.000 |
0.120 |
7 |
65960972 |
missense variant |
C/A
|
snv
|
|
7.0E-06
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
13 |
1991 |
2003 |
rs1250112198
|
1.000 |
0.120 |
7 |
65961033 |
missense variant |
C/G
|
snv
|
4.0E-06
|
1.4E-05
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
13 |
1991 |
2003 |
rs1417426295
|
1.000 |
0.120 |
7 |
65979902 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
13 |
1991 |
2003 |
rs1424546265
|
1.000 |
0.120 |
7 |
65982029 |
missense variant |
G/A
|
snv
|
8.3E-06
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
13 |
1991 |
2003 |
rs751025746
|
1.000 |
0.120 |
7 |
65974526 |
missense variant |
G/A
|
snv
|
2.0E-05
|
3.5E-05
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
13 |
1991 |
2003 |
rs764018631
|
1.000 |
0.120 |
7 |
65974625 |
missense variant |
C/A;G;T
|
snv
|
8.0E-06
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
13 |
1991 |
2003 |
rs771629102
|
1.000 |
0.120 |
7 |
65974679 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
13 |
1991 |
2003 |
rs774393243
|
1.000 |
0.120 |
7 |
65970329 |
missense variant |
G/A
|
snv
|
2.0E-05
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
13 |
1991 |
2003 |
rs777613366
|
1.000 |
0.120 |
7 |
65960977 |
missense variant |
A/G
|
snv
|
4.0E-06;
4.0E-06
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
13 |
1991 |
2003 |
rs779091113
|
1.000 |
0.120 |
7 |
65974548 |
missense variant |
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
13 |
1991 |
2003 |
rs121918181
|
0.882 |
0.120 |
7 |
65979782 |
missense variant |
G/A
|
snv
|
5.6E-05
|
7.0E-05
|
Mucopolysaccharidosis VI
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
1994 |
2018 |
rs121918185
|
0.925 |
0.280 |
7 |
65974701 |
stop gained |
G/A
|
snv
|
2.4E-05
|
2.1E-05
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
6 |
1993 |
2015 |
rs121918179
|
1.000 |
0.120 |
7 |
65967863 |
stop gained |
C/T
|
snv
|
8.2E-06
|
1.4E-05
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1995 |
2013 |