rs370837940
|
1.000 |
0.120 |
14 |
67754158 |
stop gained |
G/A;T
|
snv
|
1.2E-04;
4.0E-06
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386834261
|
0.882 |
0.080 |
14 |
67729337 |
frameshift variant |
CCCTG/-
|
delins
|
|
9.1E-05
|
Retinitis Pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
rs386834261
|
0.882 |
0.080 |
14 |
67729337 |
frameshift variant |
CCCTG/-
|
delins
|
|
9.1E-05
|
Leber Congenital Amaurosis
|
Eye Diseases
|
0.700 |
|
0 |
|
|
rs387907057
|
1.000 |
0.120 |
14 |
67772109 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs527236099
|
1.000 |
0.080 |
14 |
67729308 |
frameshift variant |
G/-
|
delins
|
|
|
Retinitis Pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
rs545219731
|
1.000 |
0.120 |
14 |
67802283 |
splice acceptor variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs746606852
|
1.000 |
0.120 |
14 |
67794240 |
splice acceptor variant |
C/G
|
snv
|
8.0E-06
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs760001730
|
1.000 |
0.120 |
14 |
67809198 |
splice donor variant |
A/C
|
snv
|
4.0E-06
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs760559263
|
1.000 |
0.120 |
14 |
67790774 |
splice acceptor variant |
C/G
|
snv
|
4.0E-06
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs767164213
|
0.925 |
0.160 |
14 |
67786112 |
splice donor variant |
A/C
|
snv
|
1.6E-05
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs768366199
|
1.000 |
0.080 |
14 |
67777597 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Spastic Paraplegia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs769329153
|
0.925 |
0.160 |
14 |
67809291 |
splice acceptor variant |
T/C
|
snv
|
5.2E-05
|
2.1E-05
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs771393692
|
1.000 |
0.120 |
14 |
67752458 |
frameshift variant |
G/-
|
del
|
4.0E-06
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs774809466
|
0.925 |
0.160 |
14 |
67783020 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
Spastic Paraplegia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs868672014
|
1.000 |
0.120 |
14 |
67767779 |
frameshift variant |
T/-
|
del
|
|
1.4E-05
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs869312914
|
1.000 |
0.120 |
14 |
67752520 |
stop gained |
G/A
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878855011
|
1.000 |
0.080 |
14 |
67785209 |
frameshift variant |
G/-
|
delins
|
|
|
Spastic Paraplegia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878855013
|
1.000 |
0.080 |
14 |
67769731 |
splice acceptor variant |
C/-
|
del
|
|
|
Spastic Paraplegia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs935301743
|
1.000 |
0.120 |
14 |
67809199 |
splice donor variant |
C/T
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs950356390
|
1.000 |
0.080 |
14 |
67783037 |
frameshift variant |
-/GCCCTTC
|
ins
|
|
7.0E-06
|
Spastic Paraplegia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1049504575
|
1.000 |
0.120 |
14 |
67754069 |
splice donor variant |
A/T
|
snv
|
4.0E-06
|
1.4E-05
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1057518016
|
1.000 |
0.120 |
14 |
67797750 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs118204049
|
1.000 |
0.120 |
14 |
67782840 |
stop gained |
G/A
|
snv
|
1.2E-05
|
2.8E-05
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs1214483973
|
1.000 |
0.120 |
14 |
67775866 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs12891047
|
0.851 |
0.080 |
14 |
67776358 |
intron variant |
C/A
|
snv
|
|
0.62
|
Amyotrophic Lateral Sclerosis, Sporadic
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |