Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908214
rs121908214
CACNA1A
0.820 GeneticVariation UNIPROT Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family. 28900389

2017
dbSNP: rs121908214
rs121908214
CACNA1A
0.820 GeneticVariation UNIPROT A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx. 26716990

2015
dbSNP: rs121908214
rs121908214
CACNA1A
0.820 GeneticVariation UNIPROT Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A. 24836863

2014
dbSNP: rs121908214
rs121908214
CACNA1A
0.820 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs121908214
rs121908214
CACNA1A
0.820 GeneticVariation UNIPROT CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine. 18400034

2008
dbSNP: rs121908214
rs121908214
CACNA1A
0.820 GeneticVariation UNIPROT A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine. 15032980

2004
dbSNP: rs121908214
rs121908214
CACNA1A
0.820 GeneticVariation BEFREE Twelve familial hemiplegic migraine (FHM) patients (6 with the I1811L mutation in CACNA1A, 3 with M731T mutation in ATP1A2, and 3 without known mutations) and 10 control subjects underwent single-fiber EMG. 15557518

2004
dbSNP: rs121908214
rs121908214
CACNA1A
0.820 GeneticVariation UNIPROT The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. 11439943

2001
dbSNP: rs121908214
rs121908214
CACNA1A
0.820 GeneticVariation UNIPROT Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. 11409427

2001
dbSNP: rs121908214
rs121908214
CACNA1A
0.820 GeneticVariation UNIPROT Genetic heterogeneity in Italian families with familial hemiplegic migraine. 10408532

1999
dbSNP: rs121908214
rs121908214
CACNA1A
0.820 GeneticVariation BEFREE We conclude that the I1811L mutation causes both FHM and cerebellar ataxia independent of the number of CAG repeats. 9566402

1998
dbSNP: rs121908214
rs121908214
CACNA1A
0.820 GeneticVariation UNIPROT Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206

1996
dbSNP: rs121908214
rs121908214
CACNA1A
G 0.820 CausalMutation CLINVAR