Table 1.
Known AD genes and loci with rare, potentially damaging variants.
| Gene | Chr | Position (hg38) |
Nucleotide | Amino acid | dbSNP | Kaviar MAF | CADD score |
Family | Affected individuals with variant/ total affected sequenced |
|---|---|---|---|---|---|---|---|---|---|
| AKAP9 | 7 | 92002147 | G>A | Glu756Lys | rs202091548 | 0.00008 | 27.8 | 191 | 1/2 |
| AKAP9 | 7 | 92017092 | G>A | Arg1288Gln | rs146797353 | 0.00822 | 6.2 | 419 | 2/2 |
| CD33 | 19 | 51225851 | CCCGG>C | Gly210Thrfs*2 | rs201074739 | 0.01339 | - | 2349 | 1/2 |
| CR1 | 1 | 207618089 | A>G | Lys2308Arg | rs41274770 | 0.01463 | 11.9 | 1893 | 2/3 |
| EPHA1 | 7 | 143398060 | C>T | Arg492Gln | rs11768549 | 0.01214 | 17.39 | 701 | 1/3 |
| INPP5D | 2 | 233125865 | G>A | Arg157Gln | rs200834931 | 0.00139 | 17.75 | 1399 | 2/2 |
| INPP5D | 2 | 233206711 | C>A | Ala994Asp | rs187622749 | 0.00433 | 22.8 | 2349 | 2/2 |
| NME8 | 7 | 37884315 | G>A | Arg336His | rs62001869 | 0.01436 | 6.08 | 1893 | 3/3 |
| PSEN1 | 14 | 73206470 | A>G | Glu318Gly | rs17125721 | 0.01423 | 16.92 | 419 | 1/2 |
| SORL1 | 11 | 121543625 | C>T | Thr588Ile | rs752726649 | 0.00001 | 32 | 191 | 2/2 |
| SORL1 | 11 | 121627591 | C>T | Thr2134Met | rs142884576 | 0.00023 | 28.6 | 1240 | 1/2 |
| TREM2 | 6 | 41161469 | C>T | Arg92His | rs143332484 | 0.00791 | 11.11 | 1893 | 1/3 |
| UNC5C | 4 | 95170263 | C>T | Ala860Thr | rs34585936 | 0.01808 | 33 | 191 | 2/2 |
| UNC5C | 4 | 95170263 | C>T | Ala860Thr | rs34585936 | 0.01808 | 33 | 2119 | 1/2 |
| UNC5C | 4 | 95202928 | G>A | Pro666Ser | rs760453427 | 0.00001 | 20.2 | 191 | 1/2 |