rs80338892
|
1.000 |
0.040 |
11 |
2167905 |
missense variant |
C/T
|
snv
|
1.1E-04
|
1.4E-04
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.800 |
1.000 |
23 |
1995 |
2014 |
rs121917763
|
0.925 |
0.040 |
11 |
2167896 |
missense variant |
A/G
|
snv
|
1.2E-05
|
7.0E-06
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.800 |
1.000 |
22 |
1995 |
2014 |
rs1288483479
|
1.000 |
0.040 |
11 |
2166760 |
missense variant |
C/T
|
snv
|
7.0E-06
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.800 |
1.000 |
22 |
1995 |
2017 |
rs121917762
|
0.925 |
0.040 |
11 |
2165727 |
stop gained |
G/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.800 |
1.000 |
20 |
1995 |
2014 |
rs121917765
|
1.000 |
0.040 |
11 |
2166544 |
missense variant |
C/A
|
snv
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.800 |
1.000 |
20 |
1995 |
2014 |
rs28934581
|
1.000 |
0.040 |
11 |
2166995 |
missense variant |
T/G
|
snv
|
1.5E-05
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.800 |
1.000 |
20 |
1995 |
2014 |
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 |
|
|
rs1057520384
|
1.000 |
0.040 |
11 |
2166003 |
missense variant |
G/A;T
|
snv
|
5.9E-06;
5.9E-06
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2014 |
rs121917764
|
1.000 |
0.040 |
11 |
2166762 |
missense variant |
G/A;C
|
snv
|
|
7.0E-06
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2014 |
rs1428589694
|
1.000 |
0.040 |
11 |
2166721 |
missense variant |
G/A
|
snv
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2014 |
rs1554922725
|
1.000 |
0.040 |
11 |
2166054 |
missense variant |
A/G
|
snv
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2014 |
rs28934580
|
1.000 |
0.040 |
11 |
2166693 |
missense variant |
C/T
|
snv
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2014 |
rs367874223
|
0.925 |
0.040 |
11 |
2165337 |
missense variant |
C/G;T
|
snv
|
2.4E-05
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2014 |
rs370962049
|
1.000 |
0.040 |
11 |
2165721 |
missense variant |
C/A;T
|
snv
|
8.0E-06;
1.6E-05
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2014 |
rs745551241
|
1.000 |
0.040 |
11 |
2165739 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2014 |
rs755536257
|
1.000 |
0.040 |
11 |
2166941 |
missense variant |
C/A;G;T
|
snv
|
1.8E-05
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2014 |
rs762304556
|
1.000 |
0.040 |
11 |
2167484 |
missense variant |
C/G;T
|
snv
|
6.6E-05
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2014 |
rs763039181
|
1.000 |
0.040 |
11 |
2166045 |
missense variant |
G/A
|
snv
|
1.8E-05
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2014 |
rs763198914
|
1.000 |
0.040 |
11 |
2166495 |
missense variant |
G/A;C
|
snv
|
4.7E-06;
4.7E-06
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2014 |
rs549435434
|
1.000 |
0.040 |
11 |
2171857 |
5 prime UTR variant |
G/A
|
snv
|
|
2.1E-05
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
5 |
1997 |
2015 |
rs1057517423
|
1.000 |
0.040 |
11 |
2167909 |
stop gained |
G/A
|
snv
|
4.1E-06
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
2 |
2011 |
2012 |
rs771610752
|
0.925 |
0.040 |
11 |
2168614 |
stop gained |
G/A
|
snv
|
6.2E-05
|
2.1E-05
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
2 |
2010 |
2012 |
rs786204540
|
1.000 |
0.040 |
11 |
2165284 |
stop gained |
G/A
|
snv
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
2 |
2010 |
2014 |
rs1057519220
|
1.000 |
0.040 |
11 |
2169670 |
stop gained |
G/A
|
snv
|
4.0E-06
|
2.1E-05
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1554922434
|
1.000 |
0.040 |
11 |
2165284 |
frameshift variant |
G/-
|
delins
|
|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |