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: rs387907125
rs387907125 		1.000 0.120 16 29814403 missense variant G/A snv
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2012 2012
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: rs1555502908
rs1555502908 		1.000 0.040 16 29814425 frameshift variant AGTC/- del
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis 		Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1301400509
rs1301400509 		0.925 0.080 16 29814412 missense variant C/T snv 7.0E-06
CUI: C1853995
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2
SEIZURES, BENIGN FAMILIAL INFANTILE, 2 		Nervous System Diseases 0.700 0
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: 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: rs796052941
rs796052941 		1.000 0.040 16 29814419 frameshift variant G/-;GG delins 1.4E-05
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis 		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