rs368373840
|
1.000 |
0.080 |
16 |
89531949 |
missense variant |
G/A;C
|
snv
|
3.6E-05
|
3.5E-05
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs372981030
|
1.000 |
0.080 |
16 |
89550505 |
stop gained |
A/T
|
snv
|
1.6E-05
|
7.0E-06
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs72547552
|
1.000 |
0.080 |
16 |
89550559 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs746053679
|
1.000 |
0.080 |
16 |
89513038 |
splice donor variant |
G/A;C;T
|
snv
|
8.7E-06;
4.4E-06;
8.7E-06
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs748555510
|
1.000 |
0.080 |
16 |
89544731 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs766155407
|
1.000 |
0.080 |
16 |
89548075 |
frameshift variant |
TC/-
|
delins
|
1.2E-05
|
7.0E-06
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs768136171
|
0.925 |
0.080 |
16 |
89529489 |
frameshift variant |
TG/-
|
delins
|
8.0E-06
|
2.1E-05
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs775364547
|
1.000 |
0.080 |
16 |
89531961 |
frameshift variant |
CCCCCGGCTGTGGGAAGACGCTGCTGGCC/-
|
delins
|
|
3.5E-05
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797046003
|
1.000 |
0.080 |
16 |
89529575 |
splice donor variant |
-/T
|
delins
|
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs864622507
|
1.000 |
0.080 |
16 |
89553103 |
missense variant |
C/T
|
snv
|
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878854606
|
1.000 |
0.080 |
16 |
89530794 |
splice donor variant |
GATTATCTGAAGGTG/-
|
delins
|
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|