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: rs1003880422
rs1003880422
TH
0.925 0.080 11 2166716 missense variant G/A;T snv 6.9E-06
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 < 0.001 1 2010 2010
dbSNP: rs1003880422
rs1003880422
TH
0.925 0.080 11 2166716 missense variant G/A;T snv 6.9E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 < 0.001 1 2010 2010
dbSNP: rs1057516491
rs1057516491
TH
1.000 0.040 11 2166689 frameshift variant C/- del
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: rs1057516712
rs1057516712
TH
1.000 0.040 11 2167011 frameshift variant C/- del
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: rs1057516716
rs1057516716
TH ; MIR4686
1.000 0.040 11 2171774 frameshift variant -/G delins
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: rs1057516736
rs1057516736
TH
1.000 0.040 11 2166632 splice donor variant C/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: rs1057516819
rs1057516819
TH
1.000 0.040 11 2166001 splice donor variant C/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: rs1057516874
rs1057516874
TH
1.000 0.040 11 2169855 splice acceptor variant CAATGAACCGCGGGGACTGTGGGGAC/- delins
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: rs1057517003
rs1057517003
TH
1.000 0.040 11 2168489 splice donor 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 0
dbSNP: rs1057517162
rs1057517162
TH
1.000 0.040 11 2166530 frameshift variant G/- del
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: 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: 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: 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: rs10743152
rs10743152
TH
1.000 0.120 11 2174751 upstream gene variant T/C snv 0.63
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs10770141
rs10770141
TH ; MIR4686
1.000 0.120 11 2172610 upstream gene variant A/C;G snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2010 2010
dbSNP: rs10770141
rs10770141
TH ; MIR4686
1.000 0.120 11 2172610 upstream gene variant A/C;G snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2007 2007
dbSNP: rs1213545562
rs1213545562
TH
1.000 0.080 11 2166984 synonymous variant G/A snv 9.6E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2005 2005
dbSNP: rs1213545562
rs1213545562
TH
1.000 0.080 11 2166984 synonymous variant G/A snv 9.6E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2005 2005
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: 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: 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: 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: rs121917763
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		0.710 1.000 8 1991 2014
dbSNP: rs121917763
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.030 1.000 3 1996 1999
dbSNP: rs121917763
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 1998 1998