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 |
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 |
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 |
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 |
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 |
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 |
rs377519272
|
1.000 |
0.120 |
7 |
65967767 |
synonymous variant |
G/A
|
snv
|
3.2E-05
|
4.2E-05
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs786205674
|
1.000 |
0.200 |
7 |
65967798 |
missense variant |
T/C
|
snv
|
|
|
Hydrops Fetalis, Non-Immune
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2015 |
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 |
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 |
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 |
rs786200863
|
1.000 |
0.120 |
7 |
65973676 |
intron variant |
GA/-
|
del
|
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
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 |
rs121918180
|
1.000 |
0.120 |
7 |
65974348 |
stop gained |
C/T
|
snv
|
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
1998 |
1998 |
rs1434169374
|
0.925 |
0.120 |
7 |
65974349 |
stop gained |
C/T
|
snv
|
|
1.4E-05
|
Mucopolysaccharidosis VI
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1998 |
2009 |
rs1434169374
|
0.925 |
0.120 |
7 |
65974349 |
stop gained |
C/T
|
snv
|
|
1.4E-05
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
1998 |
1998 |
rs763043756
|
1.000 |
0.120 |
7 |
65974425 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
8.0E-06
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
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 |
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 |
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 |
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 |
rs121918173
|
0.925 |
0.280 |
7 |
65974626 |
missense variant |
G/A
|
snv
|
2.0E-05
|
1.4E-05
|
Hydrops Fetalis, Non-Immune
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs747572640
|
1.000 |
0.120 |
7 |
65974650 |
missense variant |
G/A;C
|
snv
|
8.0E-06;
8.0E-06
|
|
Mucopolysaccharidosis VII
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
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 |