Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338892
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
dbSNP: rs121917763
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
dbSNP: rs1288483479
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
dbSNP: rs121917762
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
dbSNP: rs121917765
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
dbSNP: rs28934581
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
dbSNP: rs45471299
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
dbSNP: rs1057520384
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
dbSNP: rs121917764
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
dbSNP: rs1428589694
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
dbSNP: rs1554922725
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
dbSNP: rs28934580
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
dbSNP: rs367874223
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
dbSNP: rs370962049
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
dbSNP: rs745551241
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
dbSNP: rs755536257
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
dbSNP: rs762304556
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
dbSNP: rs763039181
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
dbSNP: rs763198914
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
dbSNP: rs549435434
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
dbSNP: rs1057517423
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
dbSNP: rs771610752
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
dbSNP: rs786204540
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
dbSNP: rs1057519220
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
dbSNP: rs1554922434
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