rs75822236
|
0.752 |
0.200 |
1 |
155235002 |
missense variant |
C/T
|
snv
|
1.8E-04
|
6.1E-05
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
3 |
1993 |
2008 |
rs1327336561
|
1.000 |
0.120 |
1 |
155235089 |
missense variant |
T/C
|
snv
|
|
8.5E-06
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs80356772
|
0.790 |
0.160 |
1 |
155235195 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2011 |
2011 |
rs80356771
|
0.776 |
0.160 |
1 |
155235196 |
missense variant |
G/A;T
|
snv
|
7.2E-05;
4.0E-06
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
4 |
1994 |
2007 |
rs756858487
|
1.000 |
0.120 |
1 |
155235214 |
missense variant |
C/T
|
snv
|
2.0E-05
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs421016
|
0.683 |
0.440 |
1 |
155235252 |
missense variant |
A/C;G
|
snv
|
8.0E-06;
1.3E-03
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
29 |
1991 |
2019 |
rs121908295
|
0.925 |
0.120 |
1 |
155235708 |
missense variant |
G/C
|
snv
|
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.020 |
1.000 |
2 |
1991 |
2017 |
rs1557901325
|
1.000 |
0.120 |
1 |
155235712 |
stop gained |
G/A
|
snv
|
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1995 |
2011 |
rs77369218
|
0.807 |
0.160 |
1 |
155235726 |
missense variant |
T/A
|
snv
|
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1064651
|
0.732 |
0.360 |
1 |
155235727 |
missense variant |
C/G
|
snv
|
1.3E-04
|
2.0E-04
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.760 |
1.000 |
7 |
1995 |
2019 |
rs80356768
|
0.882 |
0.120 |
1 |
155235750 |
frameshift variant |
ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG/-
|
delins
|
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1993 |
2016 |
rs74598136
|
0.925 |
0.120 |
1 |
155235750 |
missense variant |
G/A
|
snv
|
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs1553217009
|
0.882 |
0.120 |
1 |
155235757 |
missense variant |
C/T
|
snv
|
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2005 |
2006 |
rs747284798
|
1.000 |
0.120 |
1 |
155235769 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs80356769
|
0.776 |
0.160 |
1 |
155235772 |
missense variant |
C/A
|
snv
|
3.2E-05
|
7.0E-06
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1989 |
2014 |
rs149171124
|
1.000 |
0.120 |
1 |
155235790 |
stop gained |
C/A;T
|
snv
|
1.7E-04
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs754743440
|
1.000 |
0.120 |
1 |
155235819 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2006 |
2008 |
rs1450426641
|
0.851 |
0.160 |
1 |
155235820 |
missense variant |
A/C
|
snv
|
4.0E-06
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs121908311
|
0.827 |
0.120 |
1 |
155235823 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2000 |
2011 |
rs76763715
|
0.658 |
0.520 |
1 |
155235843 |
missense variant |
T/C;G
|
snv
|
2.3E-03
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
0.966 |
29 |
1994 |
2019 |
rs121908309
|
0.925 |
0.120 |
1 |
155236277 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1994 |
2016 |
rs760307559
|
1.000 |
0.120 |
1 |
155236285 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs398123527
|
0.827 |
0.120 |
1 |
155236298 |
missense variant |
C/G
|
snv
|
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1997 |
2018 |
rs1161552095
|
0.925 |
0.120 |
1 |
155236307 |
missense variant |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
< 0.001 |
1 |
2012 |
2012 |
rs1289324472
|
0.716 |
0.400 |
1 |
155236354 |
missense variant |
T/C
|
snv
|
|
1.4E-05
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.100 |
0.962 |
26 |
1998 |
2019 |