Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908215
rs121908215
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017

dbSNP: rs121908215
rs121908215
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014

dbSNP: rs121908215
rs121908215
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010

dbSNP: rs121908215
rs121908215
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2010

dbSNP: rs121908215
rs121908215
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861

2006

dbSNP: rs121908215
rs121908215
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 8988170

1997

dbSNP: rs121908215
rs121908215
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT Progressive ataxia due to a missense mutation in a calcium-channel gene. 9345107

1997

dbSNP: rs121908215
rs121908215
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT 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: rs121908215
rs121908215
Spinocerebellar Ataxia Type 6 (disorder)
T 0.800 CausalMutation CLINVAR

dbSNP: rs121908217
rs121908217
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017

dbSNP: rs121908217
rs121908217
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014

dbSNP: rs121908217
rs121908217
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010

dbSNP: rs121908217
rs121908217
Spinocerebellar Ataxia Type 6 (disorder)
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
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861

2006

dbSNP: rs121908217
rs121908217
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. 8988170

1997

dbSNP: rs121908217
rs121908217
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT 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: rs121908217
rs121908217
Spinocerebellar Ataxia Type 6 (disorder)
0.800 GeneticVariation UNIPROT Progressive ataxia due to a missense mutation in a calcium-channel gene. 9345107

1997

dbSNP: rs121908217
rs121908217
Spinocerebellar Ataxia Type 6 (disorder)
T 0.800 CausalMutation CLINVAR

dbSNP: rs1057520918
rs1057520918
Spinocerebellar Ataxia Type 6 (disorder)
T 0.700 CausalMutation CLINVAR

dbSNP: rs121908212
rs121908212
Spinocerebellar Ataxia Type 6 (disorder)
A 0.700 CausalMutation CLINVAR

dbSNP: rs121908245
rs121908245
Spinocerebellar Ataxia Type 6 (disorder)
0.700 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796

2017

dbSNP: rs121908245
rs121908245
Spinocerebellar Ataxia Type 6 (disorder)
0.700 GeneticVariation UNIPROT A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. 20682717

2010

dbSNP: rs121908245
rs121908245
Spinocerebellar Ataxia Type 6 (disorder)
0.700 GeneticVariation UNIPROT Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861

2006

dbSNP: rs121908245
rs121908245
Spinocerebellar Ataxia Type 6 (disorder)
0.700 GeneticVariation UNIPROT 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: rs121908245
rs121908245
Spinocerebellar Ataxia Type 6 (disorder)
0.700 GeneticVariation UNIPROT Progressive ataxia due to a missense mutation in a calcium-channel gene. 9345107

1997