rs63750349, MAPT

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.830 1.000 23 1998 2010
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.030 1.000 3 2003 2007
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
54 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
NONAKA MYOPATHY
CUI: C1853926
Disease: NONAKA MYOPATHY
81 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2007 2007
Tauopathies
CUI: C0949664
Disease: Tauopathies
43 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2003 2003