rs76763715
|
0.658 |
0.520 |
1 |
155235843 |
missense variant |
T/C;G
|
snv
|
2.3E-03
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.850 |
1.000 |
23 |
1988 |
2018 |
rs421016
|
0.683 |
0.440 |
1 |
155235252 |
missense variant |
A/C;G
|
snv
|
8.0E-06;
1.3E-03
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.850 |
1.000 |
5 |
2011 |
2019 |
rs121908314
|
1.000 |
0.120 |
1 |
155235841 |
missense variant |
G/C
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
23 |
1990 |
2009 |
rs364897
|
0.807 |
0.120 |
1 |
155238215 |
missense variant |
T/C
|
snv
|
7.2E-05
|
1.0E-04
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
21 |
1990 |
2006 |
rs75822236
|
0.752 |
0.200 |
1 |
155235002 |
missense variant |
C/T
|
snv
|
1.8E-04
|
6.1E-05
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
11 |
1993 |
2017 |
rs80356771
|
0.776 |
0.160 |
1 |
155235196 |
missense variant |
G/A;T
|
snv
|
7.2E-05;
4.0E-06
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
29 |
1990 |
2014 |
rs80356769
|
0.776 |
0.160 |
1 |
155235772 |
missense variant |
C/A
|
snv
|
3.2E-05
|
7.0E-06
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
26 |
1989 |
2011 |
rs121908297
|
1.000 |
0.120 |
1 |
155238519 |
missense variant |
T/G
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908298
|
1.000 |
0.120 |
1 |
155237357 |
missense variant |
G/A
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908299
|
1.000 |
0.120 |
1 |
155238624 |
missense variant |
G/A
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908300
|
1.000 |
0.120 |
1 |
155238144 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908301
|
1.000 |
0.120 |
1 |
155235057 |
missense variant |
C/T
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908302
|
1.000 |
0.120 |
1 |
155240033 |
missense variant |
C/A
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908304
|
1.000 |
0.120 |
1 |
155236416 |
missense variant |
C/A
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908307
|
1.000 |
0.120 |
1 |
155236261 |
missense variant |
C/G
|
snv
|
4.0E-06
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908311
|
0.827 |
0.120 |
1 |
155235823 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908312
|
0.925 |
0.120 |
1 |
155239716 |
missense variant |
C/G
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs76539814
|
0.925 |
0.120 |
1 |
155236384 |
missense variant |
G/A
|
snv
|
1.2E-05
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs77829017
|
0.925 |
0.120 |
1 |
155239939 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs78396650
|
1.000 |
0.120 |
1 |
155236426 |
missense variant |
G/A;C
|
snv
|
2.8E-05
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs61748906
|
0.851 |
0.120 |
1 |
155238228 |
missense variant |
A/G
|
snv
|
8.0E-06
|
2.8E-05
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1990 |
2006 |
rs77369218
|
0.807 |
0.160 |
1 |
155235726 |
missense variant |
T/A
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1990 |
2006 |
rs878853321
|
0.925 |
0.160 |
1 |
155237474 |
missense variant |
C/A;G
|
snv
|
4.0E-06
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
11 |
1996 |
2014 |
rs1064651
|
0.732 |
0.360 |
1 |
155235727 |
missense variant |
C/G
|
snv
|
1.3E-04
|
2.0E-04
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
9 |
1990 |
2010 |
rs1141814
|
0.925 |
0.120 |
1 |
155239934 |
missense variant |
G/A
|
snv
|
2.8E-05
|
1.4E-05
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2008 |
2009 |