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: rs121434512
rs121434512 		0.925 0.080 2 218270555 missense variant C/T snv
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.820 1.000 8 2004 2012
dbSNP: rs121434511
rs121434511 		0.882 0.080 2 218270561 missense variant C/T snv
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.820 1.000 7 2004 2011
dbSNP: rs121434511
rs121434511 		0.882 0.080 2 218270561 missense variant C/T snv
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121434511
rs121434511 		0.882 0.080 2 218270561 missense variant C/T snv
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121434511
rs121434511 		0.882 0.080 2 218270561 missense variant C/T snv
CUI: C1863061
Disease: Episodic hemiplegia
Episodic hemiplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121434511
rs121434511 		0.882 0.080 2 218270561 missense variant C/T snv
CUI: C1869117
Disease: Paroxysmal nonkinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2006 2006
dbSNP: rs121434512
rs121434512 		0.925 0.080 2 218270555 missense variant C/T snv
CUI: C1869117
Disease: Paroxysmal nonkinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2006 2012