MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63751273
rs63751273
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.100 0.952 21 2001 2020
dbSNP: rs63751438
rs63751438
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.100 1.000 13 2009 2019
dbSNP: rs63750424
rs63750424
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.070 1.000 7 2002 2018
dbSNP: rs143624519
rs143624519
0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.060 1.000 6 2011 2019
dbSNP: rs63750756
rs63750756
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.030 1.000 3 1999 2007
dbSNP: rs63750512
rs63750512
0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.020 1.000 2 1999 2000
dbSNP: rs1235948930
rs1235948930
0.882 0.120 17 45983865 missense variant C/T snv 7.0E-06
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs242557
rs242557
0.752 0.200 17 45942346 intron variant G/A snv 0.36
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs63750129
rs63750129
0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs63750349
rs63750349
0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs63750376
rs63750376
0.827 0.120 17 45996657 missense variant G/T snv
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs63750416
rs63750416
0.851 0.120 17 46010373 missense variant A/C snv
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs63750570
rs63750570
0.827 0.120 17 46018629 missense variant G/A snv
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs63750635
rs63750635
0.851 0.120 17 46014286 missense variant C/T snv
CUI: C0949664
Disease: Tauopathies
Tauopathies
Nervous System Diseases 0.010 1.000 1 2002 2002