rs11000019
|
1.000 |
0.080 |
10 |
71831773 |
intron variant |
G/A
|
snv
|
|
3.3E-02
|
Childhood asthma
|
Respiratory Tract Diseases; Immune System Diseases
|
0.800 |
1.000 |
1 |
2013 |
2013 |
rs121918103
|
1.000 |
0.120 |
10 |
71828084 |
missense variant |
G/A
|
snv
|
7.6E-05
|
1.4E-05
|
Metachromatic Leukodystrophy due to Saposin B Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
1990 |
2000 |
rs121918103
|
1.000 |
0.120 |
10 |
71828084 |
missense variant |
G/A
|
snv
|
7.6E-05
|
1.4E-05
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
4 |
2005 |
2016 |
rs121918104
|
0.925 |
0.120 |
10 |
71825892 |
missense variant |
C/G
|
snv
|
|
|
Metachromatic Leukodystrophy due to Saposin B Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
1990 |
2000 |
rs121918104
|
0.925 |
0.120 |
10 |
71825892 |
missense variant |
C/G
|
snv
|
|
|
Combined Saposin Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs121918104
|
0.925 |
0.120 |
10 |
71825892 |
missense variant |
C/G
|
snv
|
|
|
Abnormality of brain morphology
|
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs121918105
|
1.000 |
0.120 |
10 |
71819761 |
missense variant |
C/A
|
snv
|
|
|
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121918106
|
0.925 |
0.120 |
10 |
71851221 |
start lost |
T/A;C
|
snv
|
1.3E-05;
6.5E-06
|
|
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121918106
|
0.925 |
0.120 |
10 |
71851221 |
start lost |
T/A;C
|
snv
|
1.3E-05;
6.5E-06
|
|
Combined Saposin Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121918107
|
1.000 |
0.120 |
10 |
71828091 |
missense variant |
T/G
|
snv
|
|
|
Metachromatic Leukodystrophy due to Saposin B Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
5 |
1990 |
2000 |
rs121918108
|
1.000 |
0.120 |
10 |
71819762 |
missense variant |
A/C
|
snv
|
|
|
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121918109
|
1.000 |
0.120 |
10 |
71819527 |
stop gained |
G/A
|
snv
|
|
|
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121918110
|
1.000 |
0.120 |
10 |
71819860 |
missense variant |
A/G
|
snv
|
|
|
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
1991 |
2007 |
rs1431844269
|
1.000 |
0.120 |
10 |
71828053 |
inframe deletion |
CTT/-
|
del
|
|
2.8E-05
|
Metachromatic Leukodystrophy due to Saposin B Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1554879741
|
0.851 |
0.120 |
10 |
71819093 |
stop gained |
C/A
|
snv
|
|
|
Metachromatic Leukodystrophy due to Saposin B Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554879741
|
0.851 |
0.120 |
10 |
71819093 |
stop gained |
C/A
|
snv
|
|
|
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554879741
|
0.851 |
0.120 |
10 |
71819093 |
stop gained |
C/A
|
snv
|
|
|
Combined Saposin Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554879741
|
0.851 |
0.120 |
10 |
71819093 |
stop gained |
C/A
|
snv
|
|
|
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1564815053
|
1.000 |
0.120 |
10 |
71819547 |
frameshift variant |
A/-
|
del
|
|
|
Metachromatic Leukodystrophy due to Saposin B Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs754680319
|
1.000 |
0.120 |
10 |
71819769 |
missense variant |
C/G
|
snv
|
1.6E-05
|
|
Leukodystrophy, Metachromatic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs770171865
|
0.925 |
0.120 |
10 |
71828089 |
missense variant |
G/T
|
snv
|
2.4E-05
|
|
Metachromatic Leukodystrophy due to Saposin B Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1990 |
2000 |
rs770171865
|
0.925 |
0.120 |
10 |
71828089 |
missense variant |
G/T
|
snv
|
2.4E-05
|
|
Leukodystrophy, Metachromatic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
1999 |
1999 |
rs779322625
|
1.000 |
0.120 |
10 |
71819083 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.020 |
1.000 |
2 |
2017 |
2019 |