Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517123
rs1057517123
SACS
GT 0.700 GeneticVariation CLINVAR High-Throughput Screening for Ligands of the HEPN Domain of Sacsin. 26366743

2015
dbSNP: rs1057517123
rs1057517123
SACS
GT 0.700 GeneticVariation CLINVAR Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 21507954

2011