rs28940868
|
0.851 |
0.120 |
17 |
80112922 |
missense variant |
C/A;T
|
snv
|
1.2E-04;
8.2E-06
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
29 |
1991 |
2017 |
rs121907936
|
0.882 |
0.120 |
17 |
80107894 |
missense variant |
T/A;C
|
snv
|
4.2E-05
|
5.6E-05
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
25 |
1991 |
2018 |
rs757700700
|
0.925 |
0.120 |
17 |
80105872 |
missense variant |
C/T
|
snv
|
2.1E-05
|
1.4E-05
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
8 |
2003 |
2014 |
rs776948121
|
0.925 |
0.120 |
17 |
80112928 |
missense variant |
C/G;T
|
snv
|
1.2E-05
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
7 |
1994 |
2015 |
rs770610356
|
1.000 |
0.120 |
17 |
80108811 |
missense variant |
C/T
|
snv
|
4.6E-06
|
3.5E-05
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
33 |
1991 |
2015 |
rs200856561
|
1.000 |
0.120 |
17 |
80107616 |
missense variant |
C/T
|
snv
|
3.5E-04
|
1.6E-04
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
32 |
1991 |
2019 |
rs368438393
|
1.000 |
0.120 |
17 |
80112920 |
missense variant |
G/A;C;T
|
snv
|
8.3E-06;
8.3E-06;
8.3E-06
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
32 |
1991 |
2015 |
rs577915581
|
1.000 |
0.120 |
17 |
80107625 |
missense variant |
C/T
|
snv
|
2.1E-04
|
5.6E-05
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
32 |
1991 |
2019 |
rs778418246
|
1.000 |
0.120 |
17 |
80113002 |
missense variant |
G/A
|
snv
|
2.1E-05
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
32 |
1991 |
2017 |
rs121907937
|
0.925 |
0.120 |
17 |
80110950 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
31 |
1991 |
2014 |
rs370950728
|
1.000 |
0.120 |
17 |
80105857 |
missense variant |
G/A
|
snv
|
1.2E-05
|
6.3E-05
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
30 |
1991 |
2014 |
rs772883420
|
1.000 |
0.120 |
17 |
80110730 |
missense variant |
T/A;C
|
snv
|
1.6E-05
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
29 |
1991 |
2017 |
rs121907938
|
0.925 |
0.120 |
17 |
80113350 |
missense variant |
C/A;T
|
snv
|
3.9E-05
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
28 |
1991 |
2017 |
rs536906561
|
1.000 |
0.120 |
17 |
80112929 |
missense variant |
G/A
|
snv
|
5.4E-05
|
1.4E-05
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
28 |
1991 |
2015 |
rs121907945
|
0.925 |
0.120 |
17 |
80107818 |
missense variant |
G/A
|
snv
|
1.6E-05
|
2.8E-05
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
27 |
1991 |
2018 |
rs1555599667
|
1.000 |
0.120 |
17 |
80107660 |
missense variant |
C/T
|
snv
|
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
26 |
1991 |
2015 |
rs201896815
|
1.000 |
0.120 |
17 |
80107648 |
missense variant |
G/A
|
snv
|
8.0E-06
|
4.2E-05
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
26 |
1991 |
2014 |
rs369531647
|
1.000 |
0.120 |
17 |
80112664 |
missense variant |
C/A;T
|
snv
|
1.6E-05;
8.2E-06;
4.1E-06
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
26 |
1991 |
2018 |
rs528367092
|
1.000 |
0.120 |
17 |
80105771 |
missense variant |
G/A;T
|
snv
|
1.6E-05;
4.0E-06
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
26 |
1991 |
2018 |
rs755253527
|
1.000 |
0.120 |
17 |
80108495 |
missense variant |
C/G;T
|
snv
|
1.2E-05
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
26 |
1991 |
2018 |
rs28937909
|
0.925 |
0.120 |
17 |
80112914 |
missense variant |
G/A;T
|
snv
|
2.5E-05
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
25 |
1991 |
2014 |
rs778068209
|
1.000 |
0.120 |
17 |
80110050 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
25 |
1991 |
2015 |
rs560575383
|
1.000 |
0.120 |
17 |
80108724 |
missense variant |
A/C;G;T
|
snv
|
8.1E-06
|
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
24 |
1991 |
2016 |
rs786204645
|
1.000 |
0.120 |
17 |
80113281 |
missense variant |
C/T
|
snv
|
|
1.4E-05
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
24 |
1991 |
2014 |
rs786204720
|
1.000 |
0.120 |
17 |
80110945 |
missense variant |
T/C
|
snv
|
8.0E-06
|
7.0E-06
|
Glycogen storage disease type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
24 |
1991 |
2014 |