rs63750424, MAPT

N. diseases: 30
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial Dementia
CUI: C0751071
Disease: Familial Dementia
0.010 GeneticVariation BEFREE These observations suggest that although PSEN1 mutations are the most frequent cause, the MAPT R406W mutation is an important cause of early-onset familial dementia clinically diagnosed as AD. 18587238 2008