Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. 27133561

2016
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT Mutations in SACS cause atypical and late-onset forms of ARSACS. 20876471

2010
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT A novel SACS gene mutation in a Tunisian family. 19529988

2009
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT Novel SACS mutation in a Belgian family with sacsin-related ataxia. 17716690

2008
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. 18484239

2008
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. 18465152

2008
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. 18398442

2008
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT New mutation in the non-gigantic exon of SACS in Japanese siblings. 17290461

2007
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. 16007637

2005
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT A phenotype without spasticity in sacsin-related ataxia. 15985586

2005
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. 15156359

2004
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT Identification of a SACS gene missense mutation in ARSACS. 14718708

2004
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. 12873855

2003
dbSNP: rs137853019
rs137853019
SACS
0.800 GeneticVariation UNIPROT ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. 10655055

2000
dbSNP: rs137853019
rs137853019
SACS
G 0.800 CausalMutation CLINVAR