rs864622194
|
0.925 |
0.080 |
X |
103776997 |
start lost |
T/C;G
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
12 |
1989 |
2016 |
rs1135401759
|
0.925 |
0.080 |
X |
103786638 |
missense variant |
A/G
|
snv
|
|
|
Generalized limb muscle atrophy
|
|
0.700 |
|
0 |
|
|
rs1556267123
|
|
|
X |
103786627 |
frameshift variant |
AG/-
|
del
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
12 |
1989 |
2016 |
rs132630295
|
1.000 |
0.080 |
X |
103786682 |
missense variant |
C/T
|
snv
|
|
|
Multiple Sclerosis
|
Immune System Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs864622194
|
0.925 |
0.080 |
X |
103776997 |
start lost |
T/C;G
|
snv
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1989 |
2016 |
rs132630278
|
1.000 |
0.120 |
X |
103788460 |
missense variant |
C/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630279
|
1.000 |
0.120 |
X |
103787831 |
missense variant |
T/C
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630280
|
1.000 |
0.120 |
X |
103787811 |
missense variant |
C/G;T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630281
|
1.000 |
0.120 |
X |
103788469 |
missense variant |
G/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630282
|
1.000 |
0.120 |
X |
103787888 |
missense variant |
A/C
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630283
|
1.000 |
0.120 |
X |
103788485 |
missense variant |
T/C
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630284
|
1.000 |
0.120 |
X |
103787951 |
missense variant |
G/A;C
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630285
|
1.000 |
0.120 |
X |
103786493 |
missense variant |
G/A
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630286
|
0.925 |
0.120 |
X |
103788475 |
missense variant |
G/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1989 |
2000 |
rs132630289
|
1.000 |
0.120 |
X |
103785705 |
missense variant |
C/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs398123466
|
1.000 |
0.120 |
X |
103788497 |
missense variant |
G/A
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1989 |
2000 |
rs398123467
|
0.925 |
0.120 |
X |
103789373 |
missense variant |
G/C
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1989 |
2000 |
rs132630293
|
0.925 |
0.120 |
X |
103789361 |
missense variant |
C/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.020 |
1.000 |
2 |
2002 |
2014 |
rs797045064
|
1.000 |
0.120 |
X |
103776996 |
start lost |
A/G
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2003 |
2016 |
rs1060499653
|
1.000 |
0.120 |
X |
103785752 |
stop gained |
G/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060500909
|
0.925 |
0.120 |
X |
103785717 |
missense variant |
T/C
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1064794255
|
1.000 |
0.120 |
X |
103785675 |
missense variant |
G/A
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs11543022
|
1.000 |
0.120 |
X |
103785621 |
missense variant |
C/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs132630296
|
1.000 |
0.120 |
X |
103785746 |
missense variant |
G/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556267215
|
1.000 |
0.120 |
X |
103786657 |
frameshift variant |
CCAACATCAA/-
|
del
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|