rs63750570, MAPT

N. diseases: 8
Disease: Tauopathies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.010 GeneticVariation BEFREE Because the mutations (V337M, P301L) are associated with genetic tauopathies, these results suggest that a factor in disease etiology of genetic tauopathies and other dementias with altered tau is a greater abundance of tau in the cytoplasm due to decreased binding to microtubules. 11170176 2001