rs1064651
|
0.732 |
0.360 |
1 |
155235727 |
missense variant |
C/G
|
snv
|
1.3E-04
|
2.0E-04
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs104886460
|
0.776 |
0.160 |
1 |
155240629 |
splice donor variant |
C/A;T
|
snv
|
7.6E-05
|
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1064644
|
0.807 |
0.120 |
1 |
155238192 |
missense variant |
A/G
|
snv
|
8.0E-06
|
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908311
|
0.827 |
0.120 |
1 |
155235823 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs364897
|
0.807 |
0.120 |
1 |
155238215 |
missense variant |
T/C
|
snv
|
7.2E-05
|
1.0E-04
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs381418
|
0.851 |
0.120 |
1 |
155238214 |
missense variant |
A/C
|
snv
|
1.2E-05
|
2.8E-05
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs387906315
|
0.790 |
0.160 |
1 |
155240660 |
frameshift variant |
-/C
|
delins
|
5.2E-05
|
5.6E-05
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398123527
|
0.827 |
0.120 |
1 |
155236298 |
missense variant |
C/G
|
snv
|
|
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398123530
|
0.851 |
0.120 |
1 |
155238597 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398123532
|
0.827 |
0.120 |
1 |
155238270 |
missense variant |
G/A
|
snv
|
1.3E-05
|
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs409652
|
0.827 |
0.120 |
1 |
155238174 |
missense variant |
C/T
|
snv
|
3.2E-05
|
2.1E-05
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs421016
|
0.683 |
0.440 |
1 |
155235252 |
missense variant |
A/C;G
|
snv
|
8.0E-06;
1.3E-03
|
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs74500255
|
0.851 |
0.120 |
1 |
155237576 |
missense variant |
A/T
|
snv
|
1.6E-05
|
1.4E-05
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs75822236
|
0.752 |
0.200 |
1 |
155235002 |
missense variant |
C/T
|
snv
|
1.8E-04
|
6.1E-05
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs76763715
|
0.658 |
0.520 |
1 |
155235843 |
missense variant |
T/C;G
|
snv
|
2.3E-03
|
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs78973108
|
0.776 |
0.160 |
1 |
155237453 |
missense variant |
C/T
|
snv
|
2.8E-05
|
4.2E-05
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80356769
|
0.776 |
0.160 |
1 |
155235772 |
missense variant |
C/A
|
snv
|
3.2E-05
|
7.0E-06
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80356771
|
0.776 |
0.160 |
1 |
155235196 |
missense variant |
G/A;T
|
snv
|
7.2E-05;
4.0E-06
|
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80356772
|
0.790 |
0.160 |
1 |
155235195 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Gaucher Disease, Type Iiic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|