Variant: rs1057516224

present in Gene: SACS present in Chromosome: 13 Position on Chromosome: 23354536 Alleles of this Variant: G/-

rs1057516224 in SACS gene and SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE PMID 22751902 2012 Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.