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: rs121908247
rs121908247
CACNA1A
0.851 0.160 19 13235693 missense variant C/T snv
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		0.700 1.000 6 1997 2017
dbSNP: rs121908247
rs121908247
CACNA1A
0.851 0.160 19 13235693 missense variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.700 1.000 2 2006 2017
dbSNP: rs121908247
rs121908247
CACNA1A
0.851 0.160 19 13235693 missense variant C/T snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 1.000 2 2006 2017
dbSNP: rs121908247
rs121908247
CACNA1A
0.851 0.160 19 13235693 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs121908247
rs121908247
CACNA1A
0.851 0.160 19 13235693 missense variant C/T snv
CUI: C1853377
Disease: Enlarged cisterna magna
Enlarged cisterna magna 		0.700 0