rs439898
|
0.882 |
0.120 |
1 |
155238630 |
missense variant |
G/A
|
snv
|
|
2.8E-05
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs79653797
|
0.851 |
0.120 |
1 |
155238629 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
8.0E-06
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80356760
|
1.000 |
0.120 |
1 |
155240651 |
frameshift variant |
-/C
|
ins
|
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80356763
|
0.882 |
0.120 |
1 |
155238596 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
2.4E-05
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
rs147138516
|
0.925 |
0.120 |
1 |
155238570 |
missense variant |
C/G;T
|
snv
|
1.4E-04;
4.0E-06
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1991 |
2016 |
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 |
rs387906315
|
0.790 |
0.160 |
1 |
155240660 |
frameshift variant |
-/C
|
delins
|
5.2E-05
|
5.6E-05
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1991 |
2000 |
rs104886460
|
0.776 |
0.160 |
1 |
155240629 |
splice donor variant |
C/A;T
|
snv
|
7.6E-05
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1992 |
2012 |
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 |
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 |
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 |
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 |
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 |
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 |
rs1141814
|
0.925 |
0.120 |
1 |
155239934 |
missense variant |
G/A
|
snv
|
2.8E-05
|
1.4E-05
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1997 |
2007 |
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 |
rs409652
|
0.827 |
0.120 |
1 |
155238174 |
missense variant |
C/T
|
snv
|
3.2E-05
|
2.1E-05
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
3 |
1997 |
2003 |
rs867929413
|
1.000 |
0.120 |
1 |
155238242 |
stop gained |
C/T
|
snv
|
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1997 |
2013 |
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 |
rs61748906
|
0.851 |
0.120 |
1 |
155238228 |
missense variant |
A/G
|
snv
|
8.0E-06
|
2.8E-05
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2000 |
2015 |
rs398123532
|
0.827 |
0.120 |
1 |
155238270 |
missense variant |
G/A
|
snv
|
1.3E-05
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2000 |
2006 |