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: rs121908230
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		0.800 1.000 10 1996 2017
dbSNP: rs121908230
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2008 2008
dbSNP: rs121908230
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 1.000 1 2008 2008
dbSNP: rs121908230
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 1.000 1 2008 2008
dbSNP: rs121908230
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine 		0.010 1.000 1 2008 2008