Table 3 TREM2 SNP-set Characteristics
From: Rare TREM2 variants associated with Alzheimer’s disease display reduced cell surface expression
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 |