Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2070762
rs2070762
TH
0.925 0.080 11 2165105 intron variant A/G snv 0.43
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior 		0.010 1.000 1 2018 2018
dbSNP: rs2070762
rs2070762
TH
0.925 0.080 11 2165105 intron variant A/G snv 0.43
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 1.000 1 2015 2015
dbSNP: rs2070762
rs2070762
TH
0.925 0.080 11 2165105 intron variant A/G snv 0.43
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2070762
rs2070762
TH
0.925 0.080 11 2165105 intron variant A/G snv 0.43
CUI: C0239377
Disease: Arm Pain
Arm Pain 		0.010 1.000 1 2019 2019
dbSNP: rs2070762
rs2070762
TH
0.925 0.080 11 2165105 intron variant A/G snv 0.43
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2008 2008
dbSNP: rs587776767
rs587776767
TH
1.000 0.040 11 2165787 intron variant A/T snv
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.700 0
dbSNP: rs121917762
rs121917762
TH
0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.800 1.000 20 1995 2014
dbSNP: rs1554923218
rs1554923218
TH
11 2167458 stop gained G/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 3 2010 2014
dbSNP: rs771610752
rs771610752
TH
0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 3 2010 2017
dbSNP: rs1057517423
rs1057517423
TH
1.000 0.040 11 2167909 stop gained G/A snv 4.1E-06
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.700 1.000 2 2011 2012
dbSNP: rs771610752
rs771610752
TH
0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.700 1.000 2 2010 2012
dbSNP: rs786204540
rs786204540
TH
1.000 0.040 11 2165284 stop gained G/A snv
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.700 1.000 2 2010 2014
dbSNP: rs1057519220
rs1057519220
TH
1.000 0.040 11 2169670 stop gained G/A snv 4.0E-06 2.1E-05
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs121917762
rs121917762
TH
0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C4524082
Disease: Segawa syndrome
Segawa syndrome 		0.010 1.000 1 1999 1999
dbSNP: rs771610752
rs771610752
TH
0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.010 1.000 1 2017 2017
dbSNP: rs121917762
rs121917762
TH
0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1554922441
rs1554922441
TH
1.000 0.040 11 2165300 stop gained G/T snv
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.700 0
dbSNP: rs80338892
rs80338892
TH
1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.800 1.000 23 1995 2014
dbSNP: rs121917763
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.800 1.000 22 1995 2014
dbSNP: rs1288483479
rs1288483479
TH
1.000 0.040 11 2166760 missense variant C/T snv 7.0E-06
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.800 1.000 22 1995 2017
dbSNP: rs1057520384
rs1057520384
TH
1.000 0.040 11 2166003 missense variant G/A;T snv 5.9E-06; 5.9E-06
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.700 1.000 20 1995 2014
dbSNP: rs121917764
rs121917764
TH
1.000 0.040 11 2166762 missense variant G/A;C snv 7.0E-06
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.700 1.000 20 1995 2014
dbSNP: rs121917765
rs121917765
TH
1.000 0.040 11 2166544 missense variant C/A snv
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.800 1.000 20 1995 2014
dbSNP: rs1428589694
rs1428589694
TH
1.000 0.040 11 2166721 missense variant G/A snv
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.700 1.000 20 1995 2014
dbSNP: rs1554922725
rs1554922725
TH
1.000 0.040 11 2166054 missense variant A/G snv
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.700 1.000 20 1995 2014