PRRT2, proline rich transmembrane protein 2, 112476

N. diseases: 353; N. variants: 29
Disease: Episodic Kinesigenic Dyskinesia 1 ×
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: rs387907128
rs387907128 		0.925 0.080 16 29813850 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 7 2011 2016
dbSNP: rs587778771
rs587778771 		0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2011 2015
dbSNP: rs767799831
rs767799831 		1.000 0.080 16 29814366 missense variant G/A;C;T snv 4.1E-06; 4.1E-06
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2011 2016
dbSNP: rs77838305
rs77838305 		1.000 0.080 16 29813703 stop gained C/A;G;T snv
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2012 2017
dbSNP: rs1301400509
rs1301400509 		0.925 0.080 16 29814412 missense variant C/T snv 7.0E-06
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555502708
rs1555502708 		1.000 0.080 16 29813586 frameshift variant CAAG/- delins
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1567379016
rs1567379016 		0.882 0.120 16 29813358 frameshift variant G/- del
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1567379819
rs1567379819 		1.000 0.080 16 29813715 stop gained C/T snv
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs387907127
rs387907127 		0.925 0.120 16 29813541 stop gained C/T snv
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs397514579
rs397514579 		0.925 0.080 16 29813802 stop gained C/T snv 4.0E-06
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs397515576
rs397515576 		1.000 0.080 16 29813562 frameshift variant -/T delins
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs730882065
rs730882065 		1.000 0.080 16 29813564 frameshift variant TCTG/- delins
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs730882066
rs730882066 		1.000 0.080 16 29814425 frameshift variant A/- del
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs76335820
rs76335820 		1.000 0.080 16 29813701 missense variant C/A;G;T snv 5.1E-04; 1.5E-04; 6.9E-03
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs932713001
rs932713001 		1.000 0.080 16 29814375 missense variant C/A;T snv 4.1E-06; 4.1E-06
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs387907126
rs387907126 		0.851 0.120 16 29813772 stop gained C/T snv 4.2E-06
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012