Table 2.
Confirmation of SNP Sites Detected by GeneChip Probe Arrays in 10 Genes of 80 Probands
| Bases screened | Confirmed/reported SNPs | Total | Confirmed | ||||||
| Gene | Coding | NC | Total | CL | L | LP | P | ||
| ACAT2 | 1558 | 54 | 1612 | 0/0 | 1/3 | 0/1 | 2/6 | 3/10 | 30% |
| APOB | 40 | 0 | 40 | 0/0 | 0/0 | 0/0 | 0/0 | 0/0 | 0% |
| CH25H | 819 | 0 | 819 | 1/2 | 1/1 | 0/0 | 0/2 | 2/5 | 40% |
| CLA1 | 1650 | 48 | 1698 | 1/1 | 1/1 | 0/0 | 1/3 | 3/5 | 60% |
| HMGCR | 2667 | 72 | 2739 | 0/0 | 0/0 | 1/1 | 0/8 | 1/9 | 11% |
| LDLR | 2583 | 97 | 2680 | 2/3 | 1/1 | 3/4 | 4/13 | 10/21 | 48% |
| NR1H2 | 1344 | 32 | 1376 | 0/0 | 0/0 | 0/0 | 1/4 | 1/4 | 25% |
| S1P | 3159 | 84 | 3243 | 2/2 | 0/2 | 0/0 | 2/6 | 4/10 | 40% |
| SCAP | 3840 | 84 | 3924 | 0/0 | 1/2 | 1/1 | 1/9 | 3/12 | 25% |
| SREBF1 | 3575 | 82 | 3657 | 0/0 | 0/2 | 1/2 | 1/18 | 2/22 | 9% |
| SREBF2 | 3440 | 70 | 3510 | 0/0 | 0/1 | 2/3 | 5/27 | 7/31 | 23% |
| Total | 24675 | 623 | 25298 | 6/8 | 5/13 | 8/12 | 17/96 | 36/129 | 28% |
| Confirmed | 75% | 38% | 67% | 18% | 28% | ||||
