TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
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: rs1288483479
rs1288483479 		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) 		Nervous System Diseases 0.800 1.000 22 1995 2017
dbSNP: rs1057520384
rs1057520384 		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) 		Nervous System Diseases 0.700 1.000 20 1995 2014
dbSNP: rs121917762
rs121917762 		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) 		Nervous System Diseases 0.800 1.000 20 1995 2014
dbSNP: rs121917765
rs121917765 		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) 		Nervous System Diseases 0.800 1.000 20 1995 2014
dbSNP: rs1428589694
rs1428589694 		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) 		Nervous System Diseases 0.700 1.000 20 1995 2014
dbSNP: rs1554922725
rs1554922725 		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) 		Nervous System Diseases 0.700 1.000 20 1995 2014
dbSNP: rs28934580
rs28934580 		1.000 0.040 11 2166693 missense 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) 		Nervous System Diseases 0.700 1.000 20 1995 2014
dbSNP: rs28934581
rs28934581 		1.000 0.040 11 2166995 missense variant T/G snv 1.5E-05
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		Nervous System Diseases 0.800 1.000 20 1995 2014
dbSNP: rs367874223
rs367874223 		0.925 0.040 11 2165337 missense variant C/G;T snv 2.4E-05
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
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
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
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
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
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
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
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
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
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
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
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
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		Nervous System Diseases 0.700 1.000 20 1995 2014
dbSNP: rs1057517423
rs1057517423 		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) 		Nervous System Diseases 0.700 1.000 2 2011 2012
dbSNP: rs786204540
rs786204540 		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) 		Nervous System Diseases 0.700 1.000 2 2010 2014
dbSNP: rs1554922434
rs1554922434 		1.000 0.040 11 2165284 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) 		Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1554923852
rs1554923852 		1.000 0.040 11 2169759 frameshift variant A/- del
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		Nervous System Diseases 0.700 1.000 1 2001 2001
dbSNP: rs1057516491
rs1057516491 		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) 		Nervous System Diseases 0.700 0
dbSNP: rs1057516712
rs1057516712 		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) 		Nervous System Diseases 0.700 0
dbSNP: rs1057516716
rs1057516716 		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) 		Nervous System Diseases 0.700 0
dbSNP: rs1057516736
rs1057516736 		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) 		Nervous System Diseases 0.700 0
dbSNP: rs1057516819
rs1057516819 		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) 		Nervous System Diseases 0.700 0
dbSNP: rs1057516874
rs1057516874 		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) 		Nervous System Diseases 0.700 0