Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750424
rs63750424
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0751072
Disease:
Frontotemporal Lobar Degeneration
0.010 GeneticVariation BEFREE Ten FTLD-tau cases with a MAPT mutation (K257T, S305S, P301L, IVS10+16, R406W) were screened for the core differentiating neuropathological features used to diagnose the different sporadic FTLD-tau subtypes to determine whether the categorical separation of MAPT mutations from sporadic FTLD-tau is valid. 29253099 2018