THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
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: rs267607111
rs267607111 		1.000 0.080 8 42839187 missense variant T/C snv 7.0E-06
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 20 2009 2017
dbSNP: rs267607112
rs267607112 		1.000 0.080 8 42843070 missense variant C/A snv
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 20 2009 2017
dbSNP: rs387907176
rs387907176 		1.000 0.080 8 42843025 missense variant T/C snv
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 20 2009 2017
dbSNP: rs387907177
rs387907177 		1.000 0.080 8 42843027 missense variant T/G snv
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 20 2009 2017
dbSNP: rs118204013
rs118204013 		1.000 0.080 8 42839212 missense variant A/G snv
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs138918468
rs138918468 		1.000 0.080 8 42838108 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 19 2009 2017
dbSNP: rs372080941
rs372080941 		1.000 0.080 8 42839215 missense variant T/A;C snv 2.8E-05
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 19 2009 2017
dbSNP: rs759392096
rs759392096 		1.000 0.080 8 42838083 missense variant T/C snv 8.0E-06
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 19 2009 2017
dbSNP: rs769988455
rs769988455 		1.000 0.080 8 42838197 missense variant T/C snv 1.6E-05 1.4E-05
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 19 2009 2017
dbSNP: rs1563644456
rs1563644456 		1.000 0.080 8 42838298 frameshift variant -/G delins
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2009 2011
dbSNP: rs1563646198
rs1563646198 		1.000 0.080 8 42843093 start lost A/G snv
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2009 2015
dbSNP: rs1131691345
rs1131691345 		1.000 0.080 8 42838099 stop gained G/A;C snv
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2011 2012
dbSNP: rs1554599616
rs1554599616 		1.000 0.080 8 42838315 stop gained G/A snv
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2009 2014
dbSNP: rs1563644810
rs1563644810 		1.000 0.080 8 42839244 inframe deletion TTG/- delins
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2011 2015
dbSNP: rs1554599983
rs1554599983 		1.000 0.080 8 42843088 stop gained G/A snv
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs374512193
rs374512193 		0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs767519301
rs767519301 		1.000 0.080 8 42838098 missense variant C/T snv 1.2E-05
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1064797344
rs1064797344 		1.000 0.080 8 42843033 missense variant G/A snv
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1554599712
rs1554599712 		1.000 0.080 8 42839322 frameshift variant T/- delins
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs377725442
rs377725442 		1.000 0.080 8 42838030 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs766483829
rs766483829 		1.000 0.080 8 42843045 missense variant T/C snv 2.8E-05
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs767952378
rs767952378 		1.000 0.080 8 42839367 missense variant C/T snv 4.0E-06
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs768017019
rs768017019 		1.000 0.080 8 42839206 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs950435041
rs950435041 		1.000 0.080 8 42838209 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C1414216
Disease: Dystonia 6, torsion (disorder)
Dystonia 6, torsion (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs146087734
rs146087734 		8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		Nervous System Diseases 0.010 1.000 1 2010 2010