rs56144125
|
0.827 |
0.240 |
11 |
6617154 |
splice acceptor variant |
C/A;G;T
|
snv
|
4.0E-04;
1.2E-05
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1997 |
2013 |
rs119455955
|
0.851 |
0.120 |
11 |
6617040 |
stop gained |
G/A
|
snv
|
2.2E-04
|
2.4E-04
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1997 |
2013 |
rs121908202
|
0.925 |
0.120 |
11 |
6615172 |
missense variant |
G/A
|
snv
|
2.4E-05
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1999 |
2013 |
rs202189057
|
0.925 |
0.120 |
11 |
6617695 |
stop gained |
A/T
|
snv
|
4.0E-06
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2009 |
2016 |
rs119455954
|
0.925 |
0.120 |
11 |
6616056 |
missense variant |
C/T
|
snv
|
1.6E-05
|
4.9E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1998 |
2015 |
rs1554902052
|
0.925 |
0.120 |
11 |
6617430 |
splice acceptor variant |
T/C
|
snv
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2001 |
2015 |
rs759080581
|
1.000 |
0.120 |
11 |
6618809 |
stop gained |
G/A;T
|
snv
|
1.2E-05;
4.0E-06
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1999 |
2013 |
rs113019349
|
0.925 |
0.120 |
11 |
6616004 |
splice donor variant |
C/G;T
|
snv
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1999 |
1999 |
rs121908209
|
0.925 |
0.120 |
11 |
6617045 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs398122959
|
0.925 |
0.120 |
11 |
6615199 |
missense variant |
A/C
|
snv
|
4.0E-06
|
1.4E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs746085696
|
1.000 |
0.120 |
11 |
6619191 |
splice region variant |
C/G;T
|
snv
|
4.0E-06
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1060502179
|
1.000 |
0.120 |
11 |
6618823 |
missense variant |
A/C
|
snv
|
|
7.0E-06
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119455957
|
0.882 |
0.120 |
11 |
6616696 |
missense variant |
C/A
|
snv
|
8.0E-06
|
7.0E-06
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908199
|
0.925 |
0.120 |
11 |
6615542 |
missense variant |
C/T
|
snv
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908200
|
0.925 |
0.120 |
11 |
6615442 |
missense variant |
C/G
|
snv
|
2.0E-05
|
2.1E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554902216
|
0.925 |
0.120 |
11 |
6618820 |
frameshift variant |
AG/-
|
delins
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1564855725
|
0.882 |
0.160 |
11 |
6617621 |
splice region variant |
C/T
|
snv
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1564855860
|
1.000 |
0.120 |
11 |
6617769 |
stop gained |
G/C
|
snv
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs750428882
|
1.000 |
0.120 |
11 |
6616375 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs756564767
|
0.882 |
0.120 |
11 |
6617627 |
stop gained |
G/A
|
snv
|
6.4E-05
|
4.2E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs763162812
|
0.925 |
0.120 |
11 |
6616720 |
missense variant |
T/A
|
snv
|
1.6E-05
|
2.8E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs765380155
|
0.925 |
0.120 |
11 |
6616374 |
missense variant |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs786204753
|
0.925 |
0.120 |
11 |
6615217 |
stop gained |
C/T
|
snv
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|