Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. 16595610

2006
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation. 19811514

2010
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2010
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861

2006
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085

2017
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR The International Classification of Headache Disorders, 3rd edition (beta version). 23771276

2013
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR The genetic spectrum of a population-based sample of familial hemiplegic migraine. 17142831

2007
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. 9403487

1997
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. 11723274

2001
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR CaV2.1 channelopathies. 20204399

2010
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Magnetic resonance imaging in familial paroxysmal ataxia. 3358708

1988
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. 20156848

2010
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. 9005860

1997
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 9302278

1997
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. 15710862

2005
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation. 20097664

2010
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Stepwise developmental regression associated with novel CACNA1A mutation. 18940563

2008
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Migraine: gene mutations and functional consequences. 17495624

2007
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. 9436730

1998
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil. 21183743

2011
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Large CACNA1A deletion in a family with episodic ataxia type 2. 18541804

2008
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR Eye movement disorders are an early manifestation of CACNA1A mutations in children. 26814174

2016
dbSNP: rs1555756091
rs1555756091
CACNA1A
TA 0.700 CausalMutation CLINVAR A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration. 20233618

2010