rs4660387
|
|
|
1 |
40094564 |
intron variant |
C/A;G
|
snv
|
|
|
Blood Protein Measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs386833629
|
1.000 |
0.120 |
1 |
40092522 |
intron variant |
A/C
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137852699
|
1.000 |
0.120 |
1 |
40097210 |
stop gained |
A/T
|
snv
|
8.0E-05
|
4.2E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1998 |
2014 |
rs386833650
|
1.000 |
0.120 |
1 |
40089417 |
stop gained |
G/A;C
|
snv
|
3.6E-05
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
9 |
1995 |
2012 |
rs386833626
|
1.000 |
0.120 |
1 |
40097125 |
stop gained |
C/A;T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs137852700
|
0.851 |
0.120 |
1 |
40089495 |
stop gained |
G/A;C
|
snv
|
2.4E-04;
1.2E-05
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
4 |
1998 |
2013 |
rs137852700
|
0.851 |
0.120 |
1 |
40089495 |
stop gained |
G/A;C
|
snv
|
2.4E-04;
1.2E-05
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
4 |
1998 |
2014 |
rs386833649
|
1.000 |
0.120 |
1 |
40089456 |
stop gained |
G/A
|
snv
|
8.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1998 |
2012 |
rs137852700
|
0.851 |
0.120 |
1 |
40089495 |
stop gained |
G/A;C
|
snv
|
2.4E-04;
1.2E-05
|
|
Infantile neuronal ceroid lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.020 |
1.000 |
2 |
2009 |
2015 |
rs137852700
|
0.851 |
0.120 |
1 |
40089495 |
stop gained |
G/A;C
|
snv
|
2.4E-04;
1.2E-05
|
|
Ceroid lipofuscinosis, neuronal 1, infantile
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1057516447
|
1.000 |
0.120 |
1 |
40092080 |
stop gained |
G/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553166135
|
1.000 |
0.120 |
1 |
40074147 |
stop gained |
G/A
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1557714302
|
0.925 |
0.120 |
1 |
40092486 |
stop gained |
A/C
|
snv
|
|
|
Abnormality of brain morphology
|
|
0.700 |
|
0 |
|
|
rs1557714302
|
0.925 |
0.120 |
1 |
40092486 |
stop gained |
A/C
|
snv
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs1557714302
|
0.925 |
0.120 |
1 |
40092486 |
stop gained |
A/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833633
|
1.000 |
0.120 |
1 |
40092469 |
stop gained |
T/A
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833641
|
1.000 |
0.120 |
1 |
40092097 |
stop gained |
T/A;C
|
snv
|
1.2E-05
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833648
|
1.000 |
0.120 |
1 |
40089490 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833654
|
1.000 |
0.120 |
1 |
40080480 |
stop gained |
G/A
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833656
|
1.000 |
0.120 |
1 |
40080466 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833667
|
1.000 |
0.120 |
1 |
40076865 |
stop gained |
-/T
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833668
|
1.000 |
0.120 |
1 |
40074111 |
stop gained |
G/A
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833670
|
1.000 |
0.120 |
1 |
40074094 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs747204624
|
1.000 |
0.120 |
1 |
40097231 |
stop gained |
G/A;T
|
snv
|
8.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796052925
|
1.000 |
0.120 |
1 |
40091338 |
stop gained |
G/A
|
snv
|
|
1.4E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|