Table 3.
TREM2 SNP-set Characteristics
| Cohort | CHR | BP | SNP | Minor Allele (+/− strand) | AD MAF | Control MAF | AA change |
|---|---|---|---|---|---|---|---|
| Discovery (UCSF) | 6 | 41126395 | - | A/T | 0 | 0.002041 | E202D |
| 6 | 41126619 | rs138355759 | A/T | 0 | 0.002041 | T223I | |
| 6 | 41126801 | rs371702633 | C/G | 0 | 0.002041 | S162R | |
| 6 | 41127605 | rs149622783 | T/A | 0 | 0.002041 | R136Q | |
| 6 | 41127606 | - | A/T | 0 | 0.002041 | R136W | |
| 6 | 41129004 | - | A/T | 0 | 0.002041 | A130S | |
| 6 | 41129133 | rs142232675 | T/A | 0 | 0.002041 | D87N | |
| 6 | 41129252 | rs75932628 | T/A | 0.04839 | 0 | R47H | |
| Replication (ADSP) | 6 | 41126642 | - | C/G | 0.000171 | 0 | H215Q |
| 6 | 41126701 | - | T/A | 0.000171 | 0 | A196T | |
| 6 | 41126801 | rs371702633 | C/G | 0.000342 | 0 | S162R | |
| 6 | 41127543 | rs2234255 | A/T | 0.00103 | 0 | H157Y | |
| 6 | 41127561 | rs79011726 | T/A | 0.000172 | 0 | E151K | |
| 6 | 41129133 | rs142232675 | T/A | 0.001708 | 0.0009498 | D87N | |
| 6 | 41129195 | rs201258663 | A/T | 0.000171 | 0 | T66M | |
| 6 | 41129252 | rs75932628 | T/A | 0.008944 | 0.001716 | R47H | |
| 6 | 41129253 | rs753325601 | A/T | 0.000172 | 0 | R47C | |
| 6 | 41129295 | rs104894002 | A/T | 0.000345 | 0 | Q33* | |
| 6 | 41129300 | rs746216516 | A/T | 0.000173 | 0 | S31F | |
| 6 | 41129309 | rs2234252 | A/T | 0.000173 | 0 | A28V | |
| 6 | 41129313 | rs768745050 | T/A | 0.000173 | 0 | V27M | |
| 6 | 41129345 | rs777808487 | A/T | 0.000177 | 0 | S16F |
Detailed results for TREM2 SNP sets used in discovery and replication analyses. Variants in bold were included in the protein expression experiments. CHR Chromosome, BP Base Pair, rsID Reference SNP Cluster ID, MAF Minor Allele Frequency, AA Amino Acid