rs121908217, CACNA1A

N. diseases: 9
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 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.800 1.000 10 1996 2017
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
11 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.800 1.000 8 1997 2017
MIGRAINE, SPORADIC HEMIPLEGIC
CUI: C1832903
Disease: MIGRAINE, SPORADIC HEMIPLEGIC
4 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.710 1.000 1 2002 2002
Cerebellar signs
CUI: C0742038
Disease: Cerebellar signs
5 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.020 1.000 2 2002 2012
Action Tremor
CUI: C0234376
Disease: Action Tremor
2 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
Hemiplegic migraine
CUI: C0270862
Disease: Hemiplegic migraine
14 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
Intention tremor
CUI: C4551520
Disease: Intention tremor
6 0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012