Table 2.
Annotation of rare variants in AD risk genes found in at least two unrelated families.
| Gene | Position | ID | Ref | Alt | AA change | Effect | POLYPHEN2 | SIFT | Mutationtaster |
|---|---|---|---|---|---|---|---|---|---|
| TREM2 | 6‐41126454 | rs200820365 | A | T | S183C | nonsynonymous | PD | T | P |
| ABCA1 | 9‐107581120 | rs13306073 | G | A | V1096I | nonsynonymous | B | T | D |
| ABCA7 | 19‐1042325 | / | C | T | P143S | nonsynonymous | B | T | P |
| ABCA7 | 19‐1056431 | rs192694824 | G | A | A1507T | nonsynonymous | B | T | P |
| CR1 | 1‐207758129 | rs374551420 | T | C | I1363T | nonsynonymous | PD | T | P |
| CR1 | 1‐207697184 | rs199598381 | C | T | T239M | nonsynonymous | PD | T | P |
PD, Possible damaging; T, Tolerable; P, Polymorphism; B, Benign; D, Damaging.