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: rs121434512
rs121434512
AAMP ; PNKD
0.925 0.080 2 218270555 missense variant C/T snv
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		0.820 1.000 8 2004 2012
dbSNP: rs121434511
rs121434511
AAMP ; PNKD
0.882 0.080 2 218270561 missense variant C/T snv
CUI: C4551506
Disease: Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal Nonkinesigenic Dyskinesia 1 		0.820 1.000 7 2004 2011
dbSNP: rs864309682
rs864309682
CRYBA4 ; CRYBB1
1.000 0.200 22 26607953 missense variant C/T snv 4.0E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 1.000 1 2016 2016
dbSNP: rs1064793935
rs1064793935
CRYBA4 ; CRYBB1
1.000 22 26616149 frameshift variant C/- delins
CUI: C3888124
Disease: CATARACT 17, MULTIPLE TYPES
CATARACT 17, MULTIPLE TYPES 		0.700 0
dbSNP: rs121434511
rs121434511
AAMP ; PNKD
0.882 0.080 2 218270561 missense variant C/T snv
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		0.700 0
dbSNP: rs121434511
rs121434511
AAMP ; PNKD
0.882 0.080 2 218270561 missense variant C/T snv
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		0.700 0
dbSNP: rs121434511
rs121434511
AAMP ; PNKD
0.882 0.080 2 218270561 missense variant C/T snv
CUI: C1863061
Disease: Episodic hemiplegia
Episodic hemiplegia 		0.700 0
dbSNP: rs1114167433
rs1114167433
CRYBA4 ; CRYBB1
0.925 0.200 22 26607934 missense variant G/T snv
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.020 1.000 2 2011 2013
dbSNP: rs1114167433
rs1114167433
CRYBA4 ; CRYBB1
0.925 0.200 22 26607934 missense variant G/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.020 1.000 2 2011 2013
dbSNP: rs121434511
rs121434511
AAMP ; PNKD
0.882 0.080 2 218270561 missense variant C/T snv
CUI: C1869117
Disease: Paroxysmal nonkinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia 		0.020 1.000 2 2006 2006
dbSNP: rs121434512
rs121434512
AAMP ; PNKD
0.925 0.080 2 218270555 missense variant C/T snv
CUI: C1869117
Disease: Paroxysmal nonkinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia 		0.020 1.000 2 2006 2012