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: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.830 1.000 13 1996 2018
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		0.800 1.000 22 1996 2017
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 1.000 8 1996 2017
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C1832885
Disease: MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA
MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA 		0.700 0
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		0.700 0
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.030 1.000 3 2002 2012
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.030 1.000 3 1999 2019
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0004134
Disease: Ataxia
Ataxia 		0.020 1.000 2 2004 2018
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.020 1.000 2 2004 2018
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.010 1.000 1 1999 1999
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0338480
Disease: Common Migraine
Common Migraine 		0.010 1.000 1 2003 2003
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine 		0.010 1.000 1 2004 2004
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.010 1.000 1 2008 2008
dbSNP: rs121908212
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv
CUI: C1832903
Disease: MIGRAINE, SPORADIC HEMIPLEGIC
MIGRAINE, SPORADIC HEMIPLEGIC 		0.010 1.000 1 2014 2014