rs121907954
|
0.807 |
0.120 |
15 |
72350518 |
missense variant |
C/G;T
|
snv
|
1.3E-04
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.830 |
1.000 |
30 |
1988 |
2016 |
rs121907955
|
0.925 |
0.120 |
15 |
72345461 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
30 |
1988 |
2016 |
rs28941770
|
0.925 |
0.120 |
15 |
72353105 |
missense variant |
C/A;G;T
|
snv
|
4.8E-05
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
29 |
1988 |
2016 |
rs121907952
|
1.000 |
0.120 |
15 |
72345528 |
stop gained |
C/A;T
|
snv
|
8.0E-06
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
26 |
1982 |
2016 |
rs772180415
|
1.000 |
0.120 |
15 |
72349101 |
missense variant |
C/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
24 |
1988 |
2016 |
rs121907953
|
0.851 |
0.160 |
15 |
72353106 |
missense variant |
G/A
|
snv
|
2.0E-05
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
23 |
1988 |
2016 |
rs1057521137
|
1.000 |
0.120 |
15 |
72350575 |
missense variant |
C/T
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
22 |
1988 |
2016 |
rs121907959
|
0.925 |
0.120 |
15 |
72350574 |
missense variant |
C/A;T
|
snv
|
8.0E-06
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
22 |
1988 |
2016 |
rs121907961
|
1.000 |
0.120 |
15 |
72351176 |
missense variant |
G/A
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1988 |
2016 |
rs121907973
|
1.000 |
0.120 |
15 |
72351215 |
stop lost |
T/G
|
snv
|
4.0E-06
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
22 |
1988 |
2016 |
rs121907974
|
1.000 |
0.120 |
15 |
72351173 |
missense variant |
A/G
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1988 |
2016 |
rs121907975
|
1.000 |
0.120 |
15 |
72355591 |
missense variant |
A/C
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1988 |
2016 |
rs121907976
|
1.000 |
0.120 |
15 |
72351194 |
missense variant |
T/C
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
22 |
1988 |
2016 |
rs121907978
|
0.925 |
0.160 |
15 |
72346296 |
missense variant |
C/G;T
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1988 |
2016 |
rs121907979
|
1.000 |
0.120 |
15 |
72375857 |
missense variant |
A/C
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1988 |
2016 |
rs1555472604
|
1.000 |
0.120 |
15 |
72348118 |
missense variant |
T/A
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
22 |
1988 |
2016 |
rs1555472696
|
1.000 |
0.120 |
15 |
72349124 |
missense variant |
T/A
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
22 |
1988 |
2016 |
rs370266293
|
0.925 |
0.160 |
15 |
72346679 |
missense variant |
C/G;T
|
snv
|
1.0E-04
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1988 |
2016 |
rs748190164
|
0.925 |
0.160 |
15 |
72356531 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1988 |
2016 |
rs863225434
|
1.000 |
0.120 |
15 |
72346271 |
missense variant |
T/A
|
snv
|
4.0E-06
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1988 |
2016 |
rs121907968
|
1.000 |
0.120 |
15 |
72345519 |
missense variant |
A/G
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1988 |
2016 |
rs28941771
|
0.925 |
0.120 |
15 |
72353100 |
missense variant |
A/G
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1988 |
2016 |
rs387906310
|
1.000 |
0.120 |
15 |
72351231 |
missense variant |
C/G;T
|
snv
|
8.0E-06
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1988 |
2016 |
rs769866128
|
1.000 |
0.120 |
15 |
72350646 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1988 |
2016 |
rs76173977
|
1.000 |
0.120 |
15 |
72348047 |
splice donor variant |
C/A;G;T
|
snv
|
2.2E-04
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1991 |
2016 |