rs1555394376
|
1.000 |
0.080 |
14 |
67762275 |
frameshift variant |
-/A
|
delins
|
|
|
Spastic Paraplegia, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1555394824
|
1.000 |
0.120 |
14 |
67766231 |
frameshift variant |
-/A
|
delins
|
|
|
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 |
|
|
rs768176054
|
1.000 |
0.120 |
14 |
67793711 |
frameshift variant |
A/-
|
delins
|
|
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 |
2015 |
2015 |
rs767164213
|
0.925 |
0.160 |
14 |
67786112 |
splice donor variant |
A/C
|
snv
|
1.6E-05
|
|
Spastic Paraplegia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2008 |
2009 |
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 |
|
|
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 |
|
|
rs28940313
|
1.000 |
0.040 |
14 |
67729209 |
splice donor variant |
A/G
|
snv
|
|
7.0E-06
|
LEBER CONGENITAL AMAUROSIS 13
|
Eye Diseases
|
0.800 |
1.000 |
2 |
2004 |
2004 |
rs1555393005
|
1.000 |
0.120 |
14 |
67751050 |
splice donor variant |
A/G
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555399278
|
1.000 |
0.120 |
14 |
67798012 |
splice donor variant |
A/G
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; 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 |
rs1555399289
|
1.000 |
0.120 |
14 |
67798064 |
inframe deletion |
AAC/-
|
delins
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555395525
|
1.000 |
0.120 |
14 |
67772046 |
splice donor variant |
C/-
|
delins
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; 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 |
|
|
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 |
rs12891047
|
0.851 |
0.080 |
14 |
67776358 |
intron variant |
C/A
|
snv
|
|
0.62
|
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs12891047
|
0.851 |
0.080 |
14 |
67776358 |
intron variant |
C/A
|
snv
|
|
0.62
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs12891047
|
0.851 |
0.080 |
14 |
67776358 |
intron variant |
C/A
|
snv
|
|
0.62
|
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1224762841
|
1.000 |
0.120 |
14 |
67806544 |
splice donor variant |
C/A
|
snv
|
4.0E-06
|
7.0E-06
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555395524
|
1.000 |
0.120 |
14 |
67772046 |
splice donor variant |
C/A
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555396303
|
1.000 |
0.120 |
14 |
67777736 |
splice acceptor variant |
C/A
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555398778
|
1.000 |
0.120 |
14 |
67794170 |
splice donor variant |
C/A
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137907310
|
1.000 |
0.120 |
14 |
67786113 |
splice donor variant |
C/A;T
|
snv
|
2.4E-05
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894476
|
1.000 |
0.040 |
14 |
67729220 |
missense variant |
C/G
|
snv
|
|
|
LEBER CONGENITAL AMAUROSIS 13
|
Eye Diseases
|
0.800 |
1.000 |
2 |
2004 |
2004 |
rs1555397310
|
1.000 |
0.120 |
14 |
67784333 |
splice donor variant |
C/G
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|