| | Max Magnitude | Chromosome position | Summary |
|---|
| i5012578 | | | |
| rs1057516222 | 0 | 23,339,837 | |
| rs1057516224 | 0 | 23,354,536 | |
| rs1057516285 | 0 | 23,339,116 | |
| rs1057516294 | 0 | 23,339,405 | |
| rs1057516295 | 0 | 23,337,556 | |
| rs1057516347 | 0 | 23,331,336 | |
| rs1057516365 | 0 | 23,355,383 | |
| rs1057516398 | 0 | 23,332,691 | |
| rs1057516406 | 0 | 23,355,334 | |
| rs1057516438 | 0 | 23,336,352 | |
| rs1057516464 | 0 | 23,334,045 | |
| rs1057516543 | 0 | 23,354,931 | |
| rs1057516551 | 0 | 23,340,680 | |
| rs1057516554 | 0 | 23,341,692 | |
| rs1057516578 | 0 | 23,333,012 | |
| rs1057516580 | 0 | 23,338,979 | |
| rs1057516624 | 0 | 23,341,006 | |
| rs1057516625 | 0 | 23,355,422 | |
| rs1057516635 | 0 | 23,337,424 | |
| rs1057516689 | 0 | 23,336,737 | |
| rs1057516767 | 0 | 23,340,810 | |
| rs1057516773 | 0 | 23,333,022 | |
| rs1057516779 | 0 | 23,339,781 | |
| rs1057516820 | 0 | 23,358,470 | |
| rs1057516829 | 0 | 23,341,245 | |
| rs1057516837 | 0 | 23,375,261 | |
| rs1057516853 | 0 | 23,335,009 | |
| rs1057516856 | 0 | 23,332,794 | |
| rs1057516875 | 0 | 23,334,498 | |
| rs1057516930 | 0 | 23,339,578 | |
| rs1057516932 | 0 | 23,337,118 | |
| rs1057516959 | 0 | 23,336,088 | |
| rs1057516987 | 0 | 23,355,474 | |
| rs1057517002 | 0 | 23,333,072 | |
| rs1057517014 | 0 | 23,336,015 | |
| rs1057517020 | 0 | 23,335,142 | |
| rs1057517034 | 0 | 23,340,961 | |
| rs1057517039 | 0 | 23,340,520 | |
| rs1057517060 | 0 | 23,334,786 | |
| rs1057517099 | 0 | 23,338,091 | |
| rs1057517123 | 0 | 23,330,592 | |
| rs1057517138 | 0 | 23,338,131 | |
| rs1057517172 | 0 | 23,338,407 | |
| rs1057517212 | 0 | 23,335,263 | |
| rs1057517222 | 0 | 23,336,761 | |
| rs1057517232 | 0 | 23,332,145 | |
| rs1057517242 | 0 | 23,355,527 | |
| rs1057517250 | 0 | 23,333,740 | |
| rs1057517285 | 0 | 23,341,652 | |
The SACS gene on chromosome 13 encodes sacsin, a protein thought to be involved in the processing of the ataxin-1 protein.
Approximately 28 mutations in the SACS gene have been found to cause autosomal recessive spastic ataxia of Charlevoix-Saguenay, commonly called ARSACS. Two mutations have been found frequently in affected people from Quebec GHR:
- rs281865117: This mutation deletes a DNA building block (nucleotide) called thymine at position 6594 in the SACS gene (written as 6594delT). This mutation is found in more than 90 percent of people with ARSACS in Quebec.
- rs281865118: This mutation replaces the nucleotide cytosine with the nucleotide thymine at position 5254 in the SACS gene (written as C5254T).
