rs121908310
|
0.925 |
0.120 |
1 |
155235760 |
missense variant |
C/A;G
|
snv
|
4.0E-06
|
|
GAUCHER DISEASE, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
1999 |
2002 |
rs121908313
|
0.925 |
0.120 |
1 |
155237470 |
missense variant |
G/T
|
snv
|
|
|
GAUCHER DISEASE, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
1999 |
2002 |
rs78198234
|
1.000 |
0.120 |
1 |
155236420 |
missense variant |
T/A;C
|
snv
|
4.0E-06
|
|
GAUCHER DISEASE, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
1999 |
2002 |
rs74462743
|
0.925 |
0.120 |
1 |
155238194 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
GAUCHER DISEASE, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs80356772
|
0.790 |
0.160 |
1 |
155235195 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
GAUCHER DISEASE, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs104886460
|
0.776 |
0.160 |
1 |
155240629 |
splice donor variant |
C/A;T
|
snv
|
7.6E-05
|
|
GAUCHER DISEASE, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1064644
|
0.807 |
0.120 |
1 |
155238192 |
missense variant |
A/G
|
snv
|
8.0E-06
|
|
GAUCHER DISEASE, PERINATAL LETHAL
|
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, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908309
|
0.925 |
0.120 |
1 |
155236277 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
GAUCHER DISEASE, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397518434
|
1.000 |
0.120 |
1 |
155238572 |
frameshift variant |
G/-
|
delins
|
|
|
GAUCHER DISEASE, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs75822236
|
0.752 |
0.200 |
1 |
155235002 |
missense variant |
C/T
|
snv
|
1.8E-04
|
6.1E-05
|
GAUCHER DISEASE, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs76763715
|
0.658 |
0.520 |
1 |
155235843 |
missense variant |
T/C;G
|
snv
|
2.3E-03
|
|
GAUCHER DISEASE, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs78973108
|
0.776 |
0.160 |
1 |
155237453 |
missense variant |
C/T
|
snv
|
2.8E-05
|
4.2E-05
|
GAUCHER DISEASE, PERINATAL LETHAL
|
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, PERINATAL LETHAL
|
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, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80356768
|
0.882 |
0.120 |
1 |
155235750 |
frameshift variant |
ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG/-
|
delins
|
|
|
GAUCHER DISEASE, PERINATAL LETHAL
|
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, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs80356771
|
0.776 |
0.160 |
1 |
155235196 |
missense variant |
G/A;T
|
snv
|
7.2E-05;
4.0E-06
|
|
GAUCHER DISEASE, PERINATAL LETHAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|