MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Familial Alzheimer Disease (FAD) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1348800465
rs1348800465
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0276496
Disease:
Familial Alzheimer Disease (FAD) 		0.010 GeneticVariation BEFREE Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing. 26925509 2016