rs374259530
|
0.925 |
0.200 |
22 |
40350018 |
missense variant |
T/C
|
snv
|
3.6E-05
|
9.1E-05
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.800 |
1.000 |
14 |
1992 |
2013 |
rs17001868
|
0.925 |
0.080 |
22 |
40382227 |
intron variant |
A/C
|
snv
|
|
0.12
|
Breast size
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs374259530
|
0.925 |
0.200 |
22 |
40350018 |
missense variant |
T/C
|
snv
|
3.6E-05
|
9.1E-05
|
Difficulty standing
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs374259530
|
0.925 |
0.200 |
22 |
40350018 |
missense variant |
T/C
|
snv
|
3.6E-05
|
9.1E-05
|
Generalized myoclonic seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs374259530
|
0.925 |
0.200 |
22 |
40350018 |
missense variant |
T/C
|
snv
|
3.6E-05
|
9.1E-05
|
Severe global developmental delay
|
|
0.700 |
|
0 |
|
|
rs374259530
|
0.925 |
0.200 |
22 |
40350018 |
missense variant |
T/C
|
snv
|
3.6E-05
|
9.1E-05
|
Progressive neurologic deterioration
|
Mental Disorders
|
0.700 |
|
0 |
|
|
rs756210458
|
0.925 |
0.200 |
22 |
40354266 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Generalized myoclonic seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs756210458
|
0.925 |
0.200 |
22 |
40354266 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Progressive neurologic deterioration
|
Mental Disorders
|
0.700 |
|
0 |
|
|
rs756210458
|
0.925 |
0.200 |
22 |
40354266 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Severe global developmental delay
|
|
0.700 |
|
0 |
|
|
rs756210458
|
0.925 |
0.200 |
22 |
40354266 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.700 |
|
0 |
|
|
rs756210458
|
0.925 |
0.200 |
22 |
40354266 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.2E-05
|
|
Difficulty standing
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119450941
|
1.000 |
0.120 |
22 |
40364965 |
missense variant |
G/A
|
snv
|
2.0E-04
|
2.3E-04
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.800 |
1.000 |
15 |
1999 |
2016 |
rs373458753
|
1.000 |
0.120 |
22 |
40361532 |
missense variant |
C/T
|
snv
|
2.4E-05
|
5.6E-05
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.810 |
1.000 |
13 |
1992 |
2013 |
rs763542069
|
1.000 |
0.120 |
22 |
40364361 |
missense variant |
G/A
|
snv
|
3.6E-05
|
1.4E-05
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.800 |
1.000 |
13 |
1992 |
2013 |
rs777821034
|
1.000 |
0.120 |
22 |
40365027 |
missense variant |
T/C
|
snv
|
1.2E-05
|
1.4E-05
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.800 |
1.000 |
11 |
1992 |
2013 |
rs143083947
|
1.000 |
0.120 |
22 |
40346563 |
missense variant |
C/A;G;T
|
snv
|
1.7E-05;
4.4E-06;
1.2E-04
|
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.700 |
1.000 |
10 |
1992 |
2012 |
rs1465152683
|
1.000 |
0.120 |
22 |
40358961 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.700 |
1.000 |
10 |
1992 |
2012 |
rs202064195
|
1.000 |
0.120 |
22 |
40361578 |
missense variant |
C/T
|
snv
|
2.4E-05
|
1.4E-05
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.800 |
1.000 |
10 |
1992 |
2012 |
rs28941471
|
1.000 |
0.120 |
22 |
40358950 |
missense variant |
G/A
|
snv
|
3.2E-05
|
2.8E-05
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.800 |
1.000 |
10 |
1992 |
2012 |
rs370851726
|
1.000 |
0.120 |
22 |
40363060 |
missense variant |
G/A
|
snv
|
8.0E-06
|
1.4E-05
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.700 |
1.000 |
10 |
1992 |
2012 |
rs372895468
|
1.000 |
0.120 |
22 |
40365037 |
missense variant |
C/G;T
|
snv
|
2.8E-05
|
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.700 |
1.000 |
10 |
1992 |
2012 |
rs554254383
|
1.000 |
0.120 |
22 |
40364976 |
missense variant |
G/A
|
snv
|
1.6E-05
|
1.4E-05
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.700 |
1.000 |
10 |
1992 |
2012 |
rs755492501
|
1.000 |
0.120 |
22 |
40364360 |
missense variant |
C/T
|
snv
|
1.2E-05
|
7.0E-06
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.700 |
1.000 |
10 |
1992 |
2012 |
rs119450940
|
1.000 |
0.120 |
22 |
40365000 |
missense variant |
T/C
|
snv
|
|
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.800 |
1.000 |
1 |
2013 |
2013 |
rs119450942
|
1.000 |
0.120 |
22 |
40349976 |
missense variant |
C/G
|
snv
|
4.0E-06
|
|
Adenylosuccinate lyase deficiency (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders
|
0.800 |
1.000 |
1 |
2013 |
2013 |