rs28940574
|
0.925 |
0.120 |
17 |
3499060 |
missense variant |
C/A;T
|
snv
|
2.1E-04;
4.0E-06
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
24 |
1993 |
2017 |
rs761064915
|
1.000 |
0.120 |
17 |
3498966 |
missense variant |
G/A
|
snv
|
8.0E-06
|
2.1E-05
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
23 |
1993 |
2017 |
rs774323189
|
0.925 |
0.120 |
17 |
3499005 |
missense variant |
G/A
|
snv
|
4.0E-06
|
2.1E-05
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
21 |
1993 |
2017 |
rs28940279
|
0.851 |
0.120 |
17 |
3499000 |
missense variant |
A/C
|
snv
|
4.3E-04
|
2.7E-04
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
20 |
1993 |
2018 |
rs766328537
|
0.925 |
0.120 |
17 |
3476238 |
missense variant |
G/A
|
snv
|
3.2E-05
|
3.5E-05
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
20 |
1993 |
2017 |
rs786204572
|
1.000 |
0.120 |
17 |
3489249 |
missense variant |
C/A
|
snv
|
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1993 |
2017 |
rs1555539857
|
1.000 |
0.120 |
17 |
3489256 |
missense variant |
C/A
|
snv
|
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
19 |
1993 |
2017 |
rs769653717
|
1.000 |
0.120 |
17 |
3476206 |
missense variant |
T/C
|
snv
|
8.0E-06
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
19 |
1993 |
2017 |
rs104894552
|
1.000 |
0.120 |
17 |
3498892 |
missense variant |
A/T
|
snv
|
6.2E-05
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
18 |
1993 |
2017 |
rs104894548
|
1.000 |
0.120 |
17 |
3483520 |
missense variant |
T/C
|
snv
|
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
1993 |
2017 |
rs104894550
|
1.000 |
0.120 |
17 |
3494407 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
1993 |
2017 |
rs104894551
|
1.000 |
0.120 |
17 |
3476230 |
missense variant |
A/G
|
snv
|
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
1993 |
2017 |
rs1446467099
|
1.000 |
0.120 |
17 |
3481706 |
missense variant |
G/T
|
snv
|
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
1993 |
2017 |
rs770706390
|
1.000 |
0.120 |
17 |
3483569 |
missense variant |
G/A
|
snv
|
5.2E-05
|
2.1E-05
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
6 |
2000 |
2012 |
rs1057516995
|
1.000 |
0.120 |
17 |
3494446 |
missense variant |
A/G
|
snv
|
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
4 |
2002 |
2009 |
rs199565861
|
1.000 |
0.120 |
17 |
3481793 |
missense variant |
A/G;T
|
snv
|
2.6E-04;
4.2E-06
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.720 |
1.000 |
2 |
2017 |
2017 |
rs104894553
|
1.000 |
0.120 |
17 |
3476371 |
missense variant |
G/A
|
snv
|
2.2E-04
|
1.5E-04
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
7 |
2006 |
2015 |
rs144321760
|
1.000 |
0.120 |
17 |
3483575 |
missense variant |
T/C
|
snv
|
3.7E-04
|
7.0E-04
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1993 |
2017 |
rs1555538144
|
1.000 |
0.120 |
17 |
3476248 |
missense variant |
T/C
|
snv
|
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1993 |
2017 |
rs1555538148
|
1.000 |
0.120 |
17 |
3476329 |
missense variant |
C/T
|
snv
|
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1993 |
2017 |
rs1555538151
|
1.000 |
0.120 |
17 |
3476347 |
missense variant |
G/C
|
snv
|
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1993 |
2017 |
rs1555541310
|
1.000 |
0.120 |
17 |
3498985 |
missense variant |
C/T
|
snv
|
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1993 |
2017 |
rs750505963
|
1.000 |
0.120 |
17 |
3498984 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1993 |
2017 |
rs777936704
|
1.000 |
0.120 |
17 |
3481794 |
missense variant |
T/C
|
snv
|
4.2E-06
|
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
1993 |
2017 |
rs1057521115
|
1.000 |
0.120 |
17 |
3481734 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Canavan Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
14 |
1993 |
2017 |