Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs533610448
rs533610448
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0751706
Disease:
Primary Progressive Nonfluent Aphasia
0.010 GeneticVariation BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648 2016