Table 2.
Haplotype across the C9ORF72 gene on chromosome 9p21 in the two ALS patients
| SNP | C hr | Position | Risk allele | Genotype | |
|---|---|---|---|---|---|
| Family A/II-2 | Family B/II-1 | ||||
| rs765709 | 9 | 27451960 | A | AA | AA |
| rs702231 | 9 | 27588731 | A | AC | AA |
| rs2589054 | 9 | 27443802 | G | AG | AA |
| rs3849942 | 9 | 27543281 | A | AG | AA |
| rs1982915 | 9 | 27579560 | G | GG | AG |
| rs2453556 | 9 | 27586162 | G | GG | AG |
| rs1110155 | 9 | 27386505 | A | AA | CC |
| rs725804 | 9 | 27458939 | A | AC | CC |
| rs1977661 | 9 | 27502986 | C | CC | CC |
| rs1058326 | 9 | 27447089 | C | CT | CC |
| rs1822723 | 9 | 27478052 | C | CT | CC |
| rs774359 | 9 | 27561049 | C | CT | CC |
| rs1948522 | 9 | 27575785 | C | CT | CC |
| rs2150336 | 9 | 27402961 | C | TT | CC |
| rs944404 | 9 | 27450211 | T | TT | CC |
| rs868856 | 9 | 27489251 | T | CT | CT |
| rs7046653 | 9 | 27490967 | A | AG | AG |
| rs2814707 | 9 | 27536397 | A | AG | AG |
| rs1161680 | 9 | 27430232 | G | AA | GG |
| rs10122902 | 9 | 27556780 | G | AG | GG |
| rs1565948 | 9 | 27559733 | G | AG | GG |
| rs2282241 | 9 | 27572255 | G | GT | GG |
| rs903603 | 9 | 27529316 | C | CC | CT |
| rs2477518 | 9 | 27599746 | T | CT | TT |
| rs1330921 | 9 | 27367278 | T | TT | TT |
| rs10511816 | 9 | 27468461 | T | TT | TT |
| rs895023 | 9 | 27483959 | T | TT | TT |
| rs12349820 | 9 | 27553876 | T | TT | TT |
The Risk allele column is the previously identified Sardinian founder risk haplotype across this locus as published in Mok et al.12
The Genotype columns show the single-nucleotide polymorphism data for the probands of Family A and Family B.
The shared allele is highlighted in bold.
ALS, amyotrophic lateral sclerosis.