rs45471299
|
1.000 |
0.040 |
11 |
2164339 |
missense variant |
G/A
|
snv
|
4.0E-05
|
2.1E-05
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs1057516491
|
1.000 |
0.040 |
11 |
2166689 |
frameshift variant |
C/-
|
del
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516712
|
1.000 |
0.040 |
11 |
2167011 |
frameshift variant |
C/-
|
del
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516716
|
1.000 |
0.040 |
11 |
2171774 |
frameshift variant |
-/G
|
delins
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516736
|
1.000 |
0.040 |
11 |
2166632 |
splice donor variant |
C/T
|
snv
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516819
|
1.000 |
0.040 |
11 |
2166001 |
splice donor variant |
C/T
|
snv
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516874
|
1.000 |
0.040 |
11 |
2169855 |
splice acceptor variant |
CAATGAACCGCGGGGACTGTGGGGAC/-
|
delins
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517003
|
1.000 |
0.040 |
11 |
2168489 |
splice donor variant |
A/G
|
snv
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517162
|
1.000 |
0.040 |
11 |
2166530 |
frameshift variant |
G/-
|
del
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1264884607
|
1.000 |
0.040 |
11 |
2165679 |
missense variant |
C/T
|
snv
|
2.0E-05
|
2.1E-05
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1266265578
|
1.000 |
0.040 |
11 |
2167865 |
splice donor variant |
C/T
|
snv
|
|
2.1E-05
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1273610334
|
1.000 |
0.040 |
11 |
2166985 |
missense variant |
C/A
|
snv
|
4.8E-06
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554922441
|
1.000 |
0.040 |
11 |
2165300 |
stop gained |
G/T
|
snv
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554922593
|
1.000 |
0.040 |
11 |
2165688 |
frameshift variant |
CAGCA/-
|
delins
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554923004
|
1.000 |
0.040 |
11 |
2166764 |
frameshift variant |
-/C
|
delins
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554923121
|
1.000 |
0.040 |
11 |
2167034 |
splice acceptor variant |
T/C
|
snv
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554923305
|
1.000 |
0.040 |
11 |
2167851 |
splice donor variant |
AGGGGCCCCTCACTGC/-
|
delins
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554923317
|
1.000 |
0.040 |
11 |
2167864 |
splice donor variant |
A/T
|
snv
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554923513
|
1.000 |
0.040 |
11 |
2168490 |
splice donor variant |
C/G;T
|
snv
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554923802
|
1.000 |
0.040 |
11 |
2169649 |
splice donor variant |
C/T
|
snv
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554923810
|
1.000 |
0.040 |
11 |
2169665 |
frameshift variant |
-/CGGGACAGCGCCGAGGGCT
|
delins
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554924357
|
1.000 |
0.040 |
11 |
2171744 |
frameshift variant |
AAGCCCTTGGCCTGTGGCGTGGTGGCGTCGGG/-
|
delins
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1564918287
|
1.000 |
0.040 |
11 |
2167013 |
frameshift variant |
CG/-
|
delins
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs199961079
|
1.000 |
0.040 |
11 |
2166934 |
missense variant |
C/T
|
snv
|
3.1E-05
|
3.5E-05
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs201932766
|
1.000 |
0.040 |
11 |
2171785 |
start lost |
A/G
|
snv
|
8.2E-06
|
7.0E-06
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|