rs121965019
|
0.851 |
0.120 |
4 |
1002747 |
stop gained |
G/A
|
snv
|
5.9E-04
|
8.4E-04
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.740 |
1.000 |
17 |
1992 |
2016 |
rs121965020
|
0.827 |
0.280 |
4 |
987858 |
stop gained |
C/T
|
snv
|
4.7E-04
|
6.1E-04
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.730 |
1.000 |
17 |
1992 |
2014 |
rs121965021
|
0.807 |
0.320 |
4 |
1003418 |
missense variant |
C/G;T
|
snv
|
5.6E-05
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.730 |
1.000 |
12 |
1992 |
2016 |
rs754966840
|
0.925 |
0.120 |
4 |
987915 |
missense variant |
C/T
|
snv
|
1.4E-05
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
8 |
1995 |
2014 |
rs199801029
|
0.925 |
0.120 |
4 |
1002275 |
missense variant |
G/C
|
snv
|
6.6E-05
|
7.7E-05
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
1995 |
2014 |
rs777295041
|
0.925 |
0.120 |
4 |
1000880 |
splice acceptor variant |
A/G
|
snv
|
3.6E-05
|
1.4E-05
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
1994 |
2017 |
rs398123260
|
1.000 |
0.120 |
4 |
987119 |
inframe insertion |
TCGCTCCTGGCC/-;TCGCTCCTGGCCTCGCTCCTGGCC
|
delins
|
|
4.9E-05
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
6 |
1994 |
2012 |
rs779762183
|
0.925 |
0.120 |
4 |
1002063 |
protein altering variant |
-/CCCCCATTTACA
|
delins
|
9.5E-06
|
7.0E-06
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
5 |
1998 |
2013 |
rs794726877
|
0.925 |
0.120 |
4 |
987236 |
missense variant |
G/A
|
snv
|
9.2E-06
|
1.4E-05
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
5 |
1994 |
2011 |
rs121965029
|
0.851 |
0.120 |
4 |
987916 |
missense variant |
G/A
|
snv
|
9.2E-06
|
7.0E-06
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1996 |
2012 |
rs121965032
|
0.882 |
0.120 |
4 |
1002387 |
missense variant |
C/T
|
snv
|
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
4 |
1997 |
2011 |
rs1340421020
|
0.925 |
0.120 |
4 |
1002752 |
stop gained |
G/C;T
|
snv
|
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1995 |
2014 |
rs148789453
|
0.882 |
0.120 |
4 |
1001802 |
missense variant |
T/A;G
|
snv
|
2.2E-05;
4.4E-06
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
2004 |
2014 |
rs746766617
|
0.882 |
0.120 |
4 |
1002340 |
missense variant |
C/G
|
snv
|
4.0E-06
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
2011 |
2014 |
rs786200915
|
0.925 |
0.120 |
4 |
1001700 |
frameshift variant |
-/TGCTC
|
delins
|
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1996 |
2017 |
rs121965025
|
0.925 |
0.120 |
4 |
1004292 |
stop gained |
C/G;T
|
snv
|
2.8E-04;
2.8E-05
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
1994 |
2013 |
rs1264013707
|
1.000 |
0.120 |
4 |
987243 |
splice donor variant |
G/A
|
snv
|
9.0E-06
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2001 |
2012 |
rs1553917428
|
0.925 |
0.120 |
4 |
1002946 |
splice donor variant |
T/G
|
snv
|
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2001 |
2012 |
rs772416503
|
0.882 |
0.120 |
4 |
1003120 |
missense variant |
C/G;T
|
snv
|
1.4E-05
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2001 |
2011 |
rs121965031
|
0.882 |
0.120 |
4 |
1004286 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06;
8.1E-06
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs1553917754
|
0.925 |
0.120 |
4 |
1004321 |
frameshift variant |
C/-
|
delins
|
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs398123258
|
1.000 |
0.120 |
4 |
1004083 |
frameshift variant |
C/-
|
del
|
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs762411583
|
0.882 |
0.120 |
4 |
1001672 |
splice region variant |
G/A;C
|
snv
|
4.3E-06
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
1993 |
1993 |
rs1553917209
|
1.000 |
0.120 |
4 |
1002065 |
frameshift variant |
C/-
|
del
|
|
|
Mucopolysaccharidosis I
|
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
|
|
|
Mucopolysaccharidosis I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|