| Causal/Mendelian | Rare mutations that cause autosomal dominant familial AD (APP, PSEN1, PSEN2) |
| Risk-Modifying | Common variants that increase or decrease AD risk (APOE, TREM2, BIN1, CLU, PICALM, CR1, CD33, ABCA7) |
| Protective | Rare variants that may reduce AD risk |
| Strong family history | APOE genotyping may inform risk counseling |
| Research settings | GWAS loci (BIN1, CLU, PICALM, etc.) |
| Databases | OMIMOrphanetClinicalTrialsPubMed |