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: rs863224852
rs863224852
CACNA1A
0.882 0.160 19 13359680 missense variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.710 1.000 1 2016 2016
dbSNP: rs863224852
rs863224852
CACNA1A
0.882 0.160 19 13359680 missense variant C/T snv
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		0.700 0
dbSNP: rs863224852
rs863224852
CACNA1A
0.882 0.160 19 13359680 missense variant C/T snv
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.010 1.000 1 2016 2016