TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: Dopa-Responsive 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: rs1422203629
rs1422203629 		1.000 0.040 11 2167444 missense variant A/G snv 5.8E-06 1.4E-05
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs367874223
rs367874223 		0.925 0.040 11 2165337 missense variant C/G;T snv 2.4E-05
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs771351747
rs771351747 		1.000 0.040 11 2164327 missense variant T/C snv 5.5E-05 2.8E-05
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs771610752
rs771610752 		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 		Nervous System Diseases 0.010 1.000 1 2017 2017