TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: Dystonia ×
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: rs121917763
rs121917763 		0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.710 1.000 8 1991 2014
dbSNP: rs80338892
rs80338892 		1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 7 1998 2015
dbSNP: rs771610752
rs771610752 		0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2010 2017
dbSNP: rs1372180906
rs1372180906 		11 2171856 5 prime UTR variant C/T snv 7.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2007 2011
dbSNP: rs121917762
rs121917762 		0.925 0.040 11 2165727 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs45471299
rs45471299 		1.000 0.040 11 2164339 missense variant G/A snv 4.0E-05 2.1E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0