rs121908225, CACNA1A

N. diseases: 12
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 0.790 0.120 19 13365448 missense variant G/A snv 0.820 1.000 11 1996 2017
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
60 0.790 0.120 19 13365448 missense variant G/A snv 0.700 0
Familial Hemiplegic Migraine
CUI: C0338484
Disease: Familial Hemiplegic Migraine
17 0.790 0.120 19 13365448 missense variant G/A snv 0.040 1.000 4 2008 2011
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.120 19 13365448 missense variant G/A snv 0.040 1.000 4 2008 2019
Hemiplegic migraine
CUI: C0270862
Disease: Hemiplegic migraine
14 0.790 0.120 19 13365448 missense variant G/A snv 0.030 1.000 3 2009 2018
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.790 0.120 19 13365448 missense variant G/A snv 0.020 1.000 2 2009 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.790 0.120 19 13365448 missense variant G/A snv 0.020 1.000 2 2009 2010
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.790 0.120 19 13365448 missense variant G/A snv 0.010 1.000 1 2009 2009
Epileptic Seizures
CUI: C4317109
Disease: Epileptic Seizures
7 0.790 0.120 19 13365448 missense variant G/A snv 0.010 1.000 1 2010 2010
Hemiplegia-hemiconvulsion-epilepsy syndrome
CUI: C0549118
Disease: Hemiplegia-hemiconvulsion-epilepsy syndrome
1 0.790 0.120 19 13365448 missense variant G/A snv 0.010 1.000 1 2011 2011
Migraine Disorders
CUI: C0149931
Disease: Migraine Disorders
264 0.790 0.120 19 13365448 missense variant G/A snv 0.010 1.000 1 2006 2006
MIGRAINE, SPORADIC HEMIPLEGIC
CUI: C1832903
Disease: MIGRAINE, SPORADIC HEMIPLEGIC
4 0.790 0.120 19 13365448 missense variant G/A snv 0.010 1.000 1 2006 2006