rs63751273, MAPT

N. diseases: 42
Disease: Familial (FPAH) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.010 GeneticVariation BEFREE This clinicopathologic study shows inter- and intra-familial clinicopathologic heterogeneity of FTDP-17 due to MAPT p.P301L mutation, including GGT in one patient. 27859539 2017