rs1057516617
|
1.000 |
0.120 |
15 |
72346707 |
stop gained |
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516640
|
1.000 |
0.120 |
15 |
72375780 |
frameshift variant |
CCTCGTCGAGG/-
|
delins
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516850
|
1.000 |
0.120 |
15 |
72353173 |
frameshift variant |
A/-
|
delins
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516908
|
1.000 |
0.120 |
15 |
72349260 |
splice acceptor variant |
C/G
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516957
|
1.000 |
0.120 |
15 |
72375777 |
stop gained |
G/A
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517296
|
1.000 |
0.120 |
15 |
72375911 |
frameshift variant |
-/TC
|
delins
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517348
|
1.000 |
0.120 |
15 |
72375948 |
frameshift variant |
AA/-
|
delins
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057519461
|
1.000 |
0.120 |
15 |
72351168 |
missense variant |
A/G
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057519465
|
0.925 |
0.160 |
15 |
72346598 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057519466
|
0.925 |
0.160 |
15 |
72346307 |
frameshift variant |
G/-
|
del
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121907969
|
1.000 |
0.120 |
15 |
72353098 |
stop gained |
G/A;C
|
snv
|
4.0E-06
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1309204908
|
1.000 |
0.120 |
15 |
72345445 |
splice donor variant |
C/A;T
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555472262
|
1.000 |
0.120 |
15 |
72345444 |
splice donor variant |
A/G
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555472270
|
1.000 |
0.120 |
15 |
72345470 |
stop gained |
G/C
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555472296
|
1.000 |
0.120 |
15 |
72345551 |
splice acceptor variant |
C/A
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555472432
|
1.000 |
0.120 |
15 |
72346642 |
frameshift variant |
TT/C
|
delins
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555472440
|
1.000 |
0.120 |
15 |
72346686 |
frameshift variant |
CCT/A
|
delins
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555472553
|
1.000 |
0.120 |
15 |
72347692 |
frameshift variant |
T/-
|
delins
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555473070
|
1.000 |
0.120 |
15 |
72353086 |
frameshift variant |
AG/-
|
delins
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555475498
|
1.000 |
0.120 |
15 |
72375833 |
splice acceptor variant |
TG/A
|
delins
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555475519
|
1.000 |
0.120 |
15 |
72375901 |
stop gained |
C/A;T
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1800429
|
1.000 |
0.120 |
15 |
72351207 |
missense variant |
C/T
|
snv
|
2.8E-05
|
7.0E-06
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267606862
|
0.882 |
0.160 |
15 |
72346681 |
stop gained |
C/T
|
snv
|
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs387906949
|
1.000 |
0.120 |
15 |
72375800 |
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 |
|
0 |
|
|
rs543071358
|
1.000 |
0.120 |
15 |
72351189 |
missense variant |
C/G;T
|
snv
|
1.6E-05
|
|
Tay-Sachs Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|