SNP ID | Chromosome position chromosome 3 | Allelesa (1/2) | Gene location | SNP type | Protein level | Controls (CEPH) | HD patients | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
 |  |  |  |  |  | Allele frequency | Genotype frequency | Allele frequency | ||||
 |  |  |  |  |  | 1 | 2 | 1-1 | 1-2 | 2-2 | 1 | 2 |
rs10934657 | 123812836 | C / T | 5′-UTR | Non-coding |  | 0.8 | 0.2 | 487 | 174 | 19 | 0.844 | 0.156 |
rs111472457 | 124048782 | G / T | exon 8 | non-synonymous | D451E | 1 | 0 | - | - | - | - | - |
rs35057827 | 124053260 | G / A | exon 9 | non-synonymous | Q520R | 1 | 0 | - | - | - | - | - |
rs61746078 | 124066099 | G / C | exon 10 | non-synonymous | Q585E | 1 | 0 | - | - | - | - | - |
rs13074913 | 124113985 | T / G | exon 11 | non-synonymous | G654W | 1 | 0 | - | - | - | - | - |
rs61745397 | 124117557 | T / A | exon 13 | non-synonymous | T727S | 1 | 0 | - | - | - | - | - |
rs112304715 | 124132486 | A / G | exon 14 | non-synonymous | R837Q | 1 | 0 | - | - | - | - | - |
rs77832285 | 124165034 | G / T | exon 20 | non-synonymous | X1112E | 1 | 0 | - | - | - | - | - |
rs2289838 | 124181433 | G / T | exon 25 | non-synonymous | D1326E | 1 | 0 | - | - | - | - | - |
rs74389479 | 124196161 | C / A | exon 27 | non-synonymous | N1389H | 1 | 0 | - | - | - | - | - |
rs1062749 | 124211666 | G / A | exon 32 | non-synonymous | E1588G | 1 | 0 | - | - | - | - | - |