rs1799807
|
0.925 |
0.240 |
3 |
165830741 |
missense variant |
T/C
|
snv
|
1.2E-02
|
1.2E-02
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
34 |
1957 |
2016 |
rs28933389
|
1.000 |
0.160 |
3 |
165830222 |
missense variant |
G/A
|
snv
|
4.4E-04
|
5.6E-04
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
23 |
1989 |
2014 |
rs121918557
|
0.925 |
0.160 |
3 |
165829962 |
missense variant |
A/T
|
snv
|
8.8E-05
|
1.4E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
22 |
1989 |
2014 |
rs201820739
|
1.000 |
0.160 |
3 |
165830606 |
missense variant |
C/T
|
snv
|
2.8E-04
|
3.4E-04
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
22 |
1989 |
2014 |
rs3732880
|
1.000 |
0.160 |
3 |
165830652 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
22 |
1989 |
2014 |
rs104893684
|
1.000 |
0.160 |
3 |
165830030 |
missense variant |
A/G
|
snv
|
2.6E-04
|
3.5E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
20 |
1989 |
2014 |
rs121918558
|
1.000 |
0.160 |
3 |
165830567 |
missense variant |
T/A;C;G
|
snv
|
4.0E-06
|
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
20 |
1989 |
2014 |
rs745364489
|
1.000 |
0.160 |
3 |
165829794 |
missense variant |
G/A
|
snv
|
4.0E-05
|
1.4E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
4 |
2003 |
2012 |
rs199660374
|
1.000 |
0.160 |
3 |
165786202 |
missense variant |
G/A
|
snv
|
3.6E-05
|
5.6E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
3 |
1995 |
1999 |
rs121918556
|
1.000 |
0.160 |
3 |
165786255 |
missense variant |
T/A
|
snv
|
1.6E-05
|
3.5E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
20 |
1989 |
2014 |
rs148170012
|
1.000 |
0.160 |
3 |
165830841 |
missense variant |
G/A
|
snv
|
8.0E-06
|
2.8E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
20 |
1989 |
2014 |
rs1553778274
|
1.000 |
0.160 |
3 |
165830849 |
missense variant |
G/A
|
snv
|
|
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
20 |
1989 |
2014 |
rs200998515
|
1.000 |
0.160 |
3 |
165829572 |
missense variant |
C/T
|
snv
|
4.0E-05
|
2.8E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
20 |
1989 |
2014 |
rs28933390
|
1.000 |
0.160 |
3 |
165829781 |
missense variant |
C/A;G;T
|
snv
|
3.1E-03;
4.0E-06;
4.0E-06
|
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
20 |
1989 |
2014 |
rs370077923
|
1.000 |
0.160 |
3 |
165830358 |
missense variant |
T/C
|
snv
|
3.6E-05
|
9.1E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
20 |
1989 |
2014 |
rs527843566
|
1.000 |
0.160 |
3 |
165830526 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
5.6E-05
|
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
20 |
1989 |
2014 |
rs531738678
|
1.000 |
0.160 |
3 |
165830868 |
missense variant |
A/T
|
snv
|
5.2E-05
|
4.9E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
20 |
1989 |
2014 |
rs747598704
|
1.000 |
0.160 |
3 |
165830575 |
missense variant |
T/A;C
|
snv
|
2.8E-05;
1.6E-05
|
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
20 |
1989 |
2014 |
rs769316835
|
1.000 |
0.160 |
3 |
165829530 |
missense variant |
A/G
|
snv
|
2.0E-04
|
4.9E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
20 |
1989 |
2014 |
rs781368801
|
1.000 |
0.160 |
3 |
165830440 |
missense variant |
A/C
|
snv
|
2.0E-05
|
2.1E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
20 |
1989 |
2014 |
rs114706984
|
1.000 |
0.160 |
3 |
165830399 |
missense variant |
G/A
|
snv
|
2.1E-03
|
2.5E-03
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
4 |
1995 |
2016 |
rs760485585
|
1.000 |
0.160 |
3 |
165786245 |
stop gained |
A/T
|
snv
|
6.4E-05
|
2.1E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
3 |
1996 |
2015 |
rs115129687
|
1.000 |
0.160 |
3 |
165829857 |
missense variant |
C/G
|
snv
|
1.2E-04
|
2.8E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs115624085
|
1.000 |
0.160 |
3 |
165830150 |
missense variant |
T/C
|
snv
|
1.1E-04
|
1.4E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs116097205
|
1.000 |
0.160 |
3 |
165830852 |
missense variant |
T/C
|
snv
|
1.2E-05
|
1.4E-05
|
Butyrylcholinesterase deficiency
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|