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 |
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 |
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 |
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 |
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 |
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 |
rs1481318368
|
0.827 |
0.120 |
11 |
2169802 |
missense variant |
C/T
|
snv
|
|
|
Parkinson Disease
|
Nervous System Diseases
|
0.090 |
1.000 |
9 |
2013 |
2020 |
rs1554923218
|
|
|
11 |
2167458 |
stop gained |
G/C
|
snv
|
|
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
3 |
2010 |
2014 |
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 |
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 |
rs1003880422
|
0.925 |
0.080 |
11 |
2166716 |
missense variant |
G/A;T
|
snv
|
6.9E-06
|
|
Depressive disorder
|
Mental Disorders
|
0.010 |
< 0.001 |
1 |
2010 |
2010 |
rs1003880422
|
0.925 |
0.080 |
11 |
2166716 |
missense variant |
G/A;T
|
snv
|
6.9E-06
|
|
Metabolic Syndrome X
|
Nutritional and Metabolic Diseases
|
0.010 |
< 0.001 |
1 |
2010 |
2010 |
rs10770141
|
1.000 |
0.120 |
11 |
2172610 |
upstream gene variant |
A/C;G
|
snv
|
|
|
Hypertensive disease
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs10770141
|
1.000 |
0.120 |
11 |
2172610 |
upstream gene variant |
A/C;G
|
snv
|
|
|
Diabetes Mellitus, Insulin-Dependent
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs1213545562
|
1.000 |
0.080 |
11 |
2166984 |
synonymous variant |
G/A
|
snv
|
9.6E-06
|
|
Hypertensive disease
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs1213545562
|
1.000 |
0.080 |
11 |
2166984 |
synonymous variant |
G/A
|
snv
|
9.6E-06
|
|
Myocardial Infarction
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |