Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
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 		0.800 1.000 7 2011 2016
dbSNP: rs387907125
rs387907125
PAGR1 ; PRRT2
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) 		0.800 1.000 2 2012 2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis 		0.700 1.000 12 2011 2015
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.700 1.000 10 2011 2015
dbSNP: rs767799831
rs767799831
PAGR1 ; PRRT2
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 		0.700 1.000 6 2011 2016
dbSNP: rs77838305
rs77838305
PRRT2 ; LOC112268170
1.000 0.080 16 29813703 stop gained C/A;G;T snv
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.700 1.000 6 2012 2017
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.700 1.000 5 2011 2015
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins
CUI: C1853995
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2
SEIZURES, BENIGN FAMILIAL INFANTILE, 2 		0.700 1.000 5 2011 2015
dbSNP: rs730882067
rs730882067
PRRT2 ; LOC112268170
0.882 0.120 16 29813677 splice acceptor variant C/-;CC delins
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis 		0.700 1.000 4 2012 2016
dbSNP: rs1064793851
rs1064793851
PRRT2 ; LOC112268170
1.000 0.040 16 29813653 frameshift variant TCAC/- delins
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis 		0.700 1.000 3 2012 2015
dbSNP: rs387907126
rs387907126
PRRT2 ; LOC112268170
0.851 0.120 16 29813772 stop gained C/T snv 4.2E-06
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis 		0.700 1.000 3 2012 2013
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		0.700 1.000 2 2011 2015
dbSNP: rs1555502908
rs1555502908
PAGR1 ; PRRT2
1.000 0.040 16 29814425 frameshift variant AGTC/- del
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic choreoathetosis 		0.700 1.000 1 2012 2012
dbSNP: rs1301400509
rs1301400509
PAGR1 ; PRRT2
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 		0.700 0
dbSNP: rs1301400509
rs1301400509
PAGR1 ; PRRT2
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 		0.700 0
dbSNP: rs1555502708
rs1555502708
PRRT2 ; LOC112268170
1.000 0.080 16 29813586 frameshift variant CAAG/- delins
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.700 0
dbSNP: rs1567379016
rs1567379016
PRRT2 ; LOC112268170
0.882 0.120 16 29813358 frameshift variant G/- del
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.700 0
dbSNP: rs1567379016
rs1567379016
PRRT2 ; LOC112268170
0.882 0.120 16 29813358 frameshift variant G/- del
CUI: C1853995
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2
SEIZURES, BENIGN FAMILIAL INFANTILE, 2 		0.700 0
dbSNP: rs1567379016
rs1567379016
PRRT2 ; LOC112268170
0.882 0.120 16 29813358 frameshift variant G/- del
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.700 0
dbSNP: rs1567379819
rs1567379819
PRRT2 ; LOC112268170
1.000 0.080 16 29813715 stop gained C/T snv
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.700 0
dbSNP: rs1567380076
rs1567380076
PRRT2 ; LOC112268170
1.000 0.120 16 29813851 frameshift variant G/- delins
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.700 0
dbSNP: rs387907126
rs387907126
PRRT2 ; LOC112268170
0.851 0.120 16 29813772 stop gained C/T snv 4.2E-06
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.700 0
dbSNP: rs387907127
rs387907127
PRRT2 ; LOC112268170
0.925 0.120 16 29813541 stop gained C/T snv
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.700 0
dbSNP: rs387907127
rs387907127
PRRT2 ; LOC112268170
0.925 0.120 16 29813541 stop gained C/T snv
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.700 0
dbSNP: rs397514578
rs397514578
PRRT2 ; LOC112268170
1.000 0.120 16 29813616 stop gained C/T snv
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		0.700 0