rs121908212, CACNA1A

N. diseases: 14
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 0.732 0.160 19 13303877 missense variant G/A snv 0.830 1.000 13 1996 2018
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
60 0.732 0.160 19 13303877 missense variant G/A snv 0.800 1.000 22 1996 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
28 0.732 0.160 19 13303877 missense variant G/A snv 0.700 1.000 8 1996 2017
MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA
CUI: C1832885
Disease: MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA
1 0.732 0.160 19 13303877 missense variant G/A snv 0.700 0
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
11 0.732 0.160 19 13303877 missense variant G/A snv 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.732 0.160 19 13303877 missense variant G/A snv 0.030 1.000 3 2002 2012
Familial Hemiplegic Migraine
CUI: C0338484
Disease: Familial Hemiplegic Migraine
17 0.732 0.160 19 13303877 missense variant G/A snv 0.030 1.000 3 1999 2019
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.732 0.160 19 13303877 missense variant G/A snv 0.020 1.000 2 2004 2018
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.732 0.160 19 13303877 missense variant G/A snv 0.020 1.000 2 2004 2018
Common Migraine
CUI: C0338480
Disease: Common Migraine
62 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 2003 2003
Hemiplegic migraine
CUI: C0270862
Disease: Hemiplegic migraine
14 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 2004 2004
MIGRAINE, SPORADIC HEMIPLEGIC
CUI: C1832903
Disease: MIGRAINE, SPORADIC HEMIPLEGIC
4 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 2014 2014
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 2008 2008
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
23 0.732 0.160 19 13303877 missense variant G/A snv 0.010 1.000 1 1999 1999