|
rs28940569
|
1.000 |
0.120 |
8 |
1780495 |
missense variant |
G/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2004 |
2016 |
|
rs386834125
|
1.000 |
0.120 |
8 |
1771281 |
missense variant |
A/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2004 |
2016 |
|
rs386834126
|
1.000 |
0.120 |
8 |
1771374 |
missense variant |
T/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2004 |
2016 |
|
rs386834133
|
1.000 |
0.120 |
8 |
1780287 |
missense variant |
A/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2004 |
2016 |
|
rs386834132
|
1.000 |
0.120 |
8 |
1780265 |
frameshift variant |
CT/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2000 |
2012 |
|
rs10097891
|
1.000 |
0.040 |
8 |
1778643 |
intron variant |
C/A
|
snv
|
|
0.70
|
Leukemia, Myelocytic, Acute
|
Neoplasms
|
0.700 |
1.000 |
1 |
2017 |
2017 |
|
rs11986414
|
1.000 |
0.120 |
8 |
1798784 |
intron variant |
A/G
|
snv
|
|
0.27
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
|
rs3935479
|
1.000 |
0.040 |
8 |
1780023 |
intron variant |
A/G
|
snv
|
|
8.1E-02
|
Leukemia, Myelocytic, Acute
|
Neoplasms
|
0.700 |
1.000 |
1 |
2017 |
2017 |
|
rs4875958
|
1.000 |
0.040 |
8 |
1772924 |
missense variant |
G/A;C
|
snv
|
|
|
Systolic Pressure
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
|
rs4875958
|
1.000 |
0.040 |
8 |
1772924 |
missense variant |
G/A;C
|
snv
|
|
|
Leukemia, Myelocytic, Acute
|
Neoplasms
|
0.700 |
1.000 |
1 |
2017 |
2017 |
|
rs6558530
|
|
|
8 |
1758041 |
intron variant |
A/G
|
snv
|
|
0.70
|
Systolic Pressure
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
|
rs7014327
|
1.000 |
0.040 |
8 |
1775886 |
intron variant |
G/A
|
snv
|
|
0.69
|
Leukemia, Myelocytic, Acute
|
Neoplasms
|
0.700 |
1.000 |
1 |
2017 |
2017 |
|
rs1057516582
|
1.000 |
0.120 |
8 |
1771317 |
frameshift variant |
A/-
|
del
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs1057516867
|
1.000 |
0.120 |
8 |
1771101 |
frameshift variant |
T/-
|
del
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs1554448874
|
1.000 |
0.120 |
8 |
1771056 |
start lost |
T/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs1554448924
|
1.000 |
0.120 |
8 |
1771104 |
frameshift variant |
A/-
|
del
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs1554449028
|
1.000 |
0.120 |
8 |
1771257 |
frameshift variant |
C/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs1554449047
|
1.000 |
0.120 |
8 |
1771280 |
stop gained |
C/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs1554449124
|
1.000 |
0.120 |
8 |
1771360 |
stop gained |
G/A
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs1554449136
|
1.000 |
0.120 |
8 |
1771366 |
stop gained |
G/A
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs1554451484
|
1.000 |
0.120 |
8 |
1780248 |
splice acceptor variant |
A/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs1554451504
|
1.000 |
0.120 |
8 |
1780299 |
frameshift variant |
T/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs386834123
|
1.000 |
0.120 |
8 |
1771233 |
inframe deletion |
AAG/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs386834128
|
1.000 |
0.120 |
8 |
1771518 |
missense variant |
C/A;T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
|
rs386834135
|
1.000 |
0.120 |
8 |
1780339 |
inframe deletion |
TGG/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|