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 0.851 0.120 16 29813772 stop gained C/T snv 4.2E-06 0.700 1.000 3 2012 2013
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
CUI: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
9 0.851 0.120 16 29813772 stop gained C/T snv 4.2E-06 0.700 0
Common Migraine
CUI: C0338480
Disease: Common Migraine
62 0.851 0.120 16 29813772 stop gained C/T snv 4.2E-06 0.010 1.000 1 2012 2012
Episodic Kinesigenic Dyskinesia 1
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
18 0.851 0.120 16 29813772 stop gained C/T snv 4.2E-06 0.010 1.000 1 2012 2012