Gene: CACNA1A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908215
rs121908215
CACNA1A
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs121908217
rs121908217
CACNA1A
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs121908215
rs121908215
CACNA1A
0.800 GeneticVariation UNIPROT A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2010
dbSNP: rs121908217
rs121908217
CACNA1A
0.800 GeneticVariation UNIPROT A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2010
dbSNP: rs121908245
rs121908245
CACNA1A
0.700 GeneticVariation UNIPROT A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2010
dbSNP: rs121908247
rs121908247
CACNA1A
0.700 GeneticVariation UNIPROT A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2010
dbSNP: rs121908215
rs121908215
CACNA1A
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs121908217
rs121908217
CACNA1A
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs121908215
rs121908215
CACNA1A
0.800 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017
dbSNP: rs121908217
rs121908217
CACNA1A
0.800 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017
dbSNP: rs121908245
rs121908245
CACNA1A
0.700 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017
dbSNP: rs121908247
rs121908247
CACNA1A
0.700 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017