Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1485209013
rs1485209013
SACS
A 0.700 CausalMutation CLINVAR Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. 23280630

2013
dbSNP: rs1485209013
rs1485209013
SACS
A 0.700 CausalMutation CLINVAR Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. 22816526

2013