rs121908230, CACNA1A

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
37 0.882 0.080 19 13262789 missense variant C/T snv 0.800 1.000 10 1996 2017
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008
Hemiplegic migraine
CUI: C0270862
Disease: Hemiplegic migraine
14 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008