rs121434511, PNKD;AAMP

N. diseases: 5
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 Nonkinesigenic Dyskinesia 1
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
6 0.882 0.080 2 218270561 missense variant C/T snv 0.820 1.000 7 2004 2011
Dyskinesias, Paroxysmal
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
3 0.882 0.080 2 218270561 missense variant C/T snv 0.700 0
Dystonia, Paroxysmal
CUI: C0393588
Disease: Dystonia, Paroxysmal
4 0.882 0.080 2 218270561 missense variant C/T snv 0.700 0
Episodic hemiplegia
CUI: C1863061
Disease: Episodic hemiplegia
1 0.882 0.080 2 218270561 missense variant C/T snv 0.700 0
Paroxysmal nonkinesigenic dyskinesia
CUI: C1869117
Disease: Paroxysmal nonkinesigenic dyskinesia
5 0.882 0.080 2 218270561 missense variant C/T snv 0.020 1.000 2 2006 2006