Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Paroxysmal kinesigenic choreoathetosis
CUI: C1868682
Disease: Paroxysmal kinesigenic choreoathetosis
6 0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins 0.700 1.000 12 2011 2015
Episodic Kinesigenic Dyskinesia 1
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
18 0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins 0.700 1.000 10 2011 2015
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
9 0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins 0.700 1.000 5 2011 2015
SEIZURES, BENIGN FAMILIAL INFANTILE, 2
CUI: C1853995
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 2
7 0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins 0.700 1.000 5 2011 2015
Paroxysmal Nonkinesigenic Dyskinesia 1
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
6 0.827 0.120 16 29813695 frameshift variant C/-;CC;CCC delins 0.700 1.000 2 2011 2015