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 |
|
|
rs381737
|
0.851 |
0.120 |
1 |
155238141 |
missense variant |
A/C;T
|
snv
|
4.0E-06;
4.4E-05
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2008 |
2008 |
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 |
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 |
rs1553217294
|
0.925 |
0.120 |
1 |
155236417 |
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 |
1 |
2014 |
2014 |
rs1553217314
|
1.000 |
0.120 |
1 |
155236440 |
frameshift variant |
A/-
|
del
|
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
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 |
rs121908313
|
0.925 |
0.120 |
1 |
155237470 |
missense variant |
G/T
|
snv
|
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs1317187144
|
0.851 |
0.120 |
1 |
155239889 |
missense variant |
T/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 |
2017 |
2017 |
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 |
rs1366567865
|
1.000 |
0.120 |
1 |
155237426 |
frameshift variant |
G/-
|
delins
|
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
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 |
rs367968666
|
0.882 |
0.120 |
1 |
155237458 |
missense variant |
A/C
|
snv
|
2.4E-04
|
1.6E-04
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs398123526
|
0.925 |
0.120 |
1 |
155236409 |
missense variant |
C/G;T
|
snv
|
1.2E-05;
4.0E-06
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs535896234
|
0.882 |
0.120 |
1 |
155237399 |
missense variant |
T/C
|
snv
|
1.8E-04
|
3.5E-05
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
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 |
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 |
rs747409352
|
0.925 |
0.120 |
1 |
155238625 |
synonymous variant |
T/A
|
snv
|
1.2E-04
|
2.8E-05
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
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 |
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 |
rs76725886
|
0.925 |
0.120 |
1 |
155237531 |
missense variant |
G/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 |
2005 |
2005 |