rs137852886
|
0.925 |
0.080 |
3 |
81648876 |
missense variant |
A/G
|
snv
|
4.4E-06
|
2.1E-05
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
2 |
1996 |
2015 |
rs137852887
|
0.925 |
0.080 |
3 |
81646403 |
missense variant |
A/T
|
snv
|
|
1.4E-05
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
0 |
1996 |
2004 |
rs137852889
|
1.000 |
0.080 |
3 |
81537080 |
missense variant |
T/C
|
snv
|
|
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
0 |
1996 |
2004 |
rs80338671
|
0.851 |
0.120 |
3 |
81642787 |
missense variant |
T/C;G
|
snv
|
4.5E-04;
3.2E-04
|
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
8 |
1996 |
2015 |
rs137852888
|
0.882 |
0.120 |
3 |
81577973 |
stop gained |
G/A;C
|
snv
|
3.7E-05
|
5.6E-05
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
0 |
2016 |
2016 |
rs192044702
|
0.882 |
0.120 |
3 |
81648854 |
splice donor variant |
A/G
|
snv
|
8.9E-04
|
7.7E-04
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1998 |
2017 |
rs766935302
|
0.925 |
0.080 |
3 |
81535220 |
stop gained |
G/A;C
|
snv
|
2.8E-05
|
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
2004 |
2009 |
rs886058900
|
1.000 |
0.080 |
3 |
81577939 |
missense variant |
T/C
|
snv
|
4.3E-06
|
7.0E-06
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2008 |
2015 |
rs1057517315
|
0.925 |
0.080 |
3 |
81705469 |
frameshift variant |
T/-
|
delins
|
|
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2003 |
2012 |
rs201958741
|
0.851 |
0.120 |
3 |
81577999 |
missense variant |
C/T
|
snv
|
3.3E-05
|
4.9E-05
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2000 |
2014 |
rs137852890
|
0.925 |
0.120 |
3 |
81536940 |
stop gained |
C/A;T
|
snv
|
|
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs137852894
|
0.925 |
0.120 |
3 |
81537071 |
stop gained |
C/T
|
snv
|
1.1E-05
|
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1553690406
|
1.000 |
0.080 |
3 |
81670852 |
stop gained |
C/A
|
snv
|
|
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1559637815
|
1.000 |
0.080 |
3 |
81537034 |
stop gained |
G/T
|
snv
|
|
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs397515343
|
1.000 |
0.080 |
3 |
81761374 |
splice donor variant |
C/T
|
snv
|
|
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs397515344
|
0.925 |
0.120 |
3 |
81648851 |
splice region variant |
C/G
|
snv
|
|
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs763016962
|
1.000 |
0.080 |
3 |
81594024 |
splice acceptor variant |
C/A
|
snv
|
|
1.4E-05
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs80338672
|
0.925 |
0.080 |
3 |
81578000 |
missense variant |
G/A
|
snv
|
3.7E-05
|
7.0E-06
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs80338673
|
0.882 |
0.120 |
3 |
81577972 |
missense variant |
C/T
|
snv
|
1.6E-05
|
|
Glycogen Storage Disease Type IV
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|