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: rs8070723
rs8070723
0.851 0.240 17 46003698 intron variant A/G snv 0.18
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.800 1.000 5 2009 2014
dbSNP: rs1052553
rs1052553
0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.730 0.750 4 2010 2012
dbSNP: rs62063857
rs62063857
0.882 0.120 17 45999299 missense variant A/G snv 0.14 0.15
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.730 0.750 4 2010 2017
dbSNP: rs17649553
rs17649553
0.882 0.160 17 45917282 intron variant C/T snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.720 1.000 4 2014 2019
dbSNP: rs1800547
rs1800547
0.925 0.120 17 45974480 non coding transcript exon variant A/G snv 0.15 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.720 1.000 4 2008 2012
dbSNP: rs17563986
rs17563986
1.000 0.040 17 45913906 intron variant A/G snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 4 2009 2014
dbSNP: rs1981997
rs1981997
1.000 0.040 17 45979401 non coding transcript exon variant G/A snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 3 2009 2012
dbSNP: rs10445337
rs10445337
0.925 0.120 17 45990034 missense variant T/C snv 0.15 0.15
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs10445338
rs10445338
1.000 0.040 17 45990316 intron variant G/A snv 0.15
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1052551
rs1052551
1.000 0.040 17 45991558 synonymous variant G/A;T snv 0.14; 8.0E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1052587
rs1052587
0.925 0.120 17 46025238 3 prime UTR variant T/C snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1078268
rs1078268
0.925 0.120 17 45998535 intron variant A/G snv 0.15
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs17564983
rs17564983
1.000 0.040 17 45934459 intron variant A/C snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs17573175
rs17573175
1.000 0.040 17 45993723 intron variant C/G;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs17574228
rs17574228
0.925 0.120 17 46027143 3 prime UTR variant T/C snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs17650901
rs17650901
0.925 0.120 17 45962325 5 prime UTR variant A/G snv 0.14 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs17651549
rs17651549
0.882 0.160 17 45983912 missense variant C/T snv 0.15 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs17652121
rs17652121
0.925 0.120 17 45996607 synonymous variant T/C snv 0.14 0.15
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs17691610
rs17691610
1.000 0.040 17 45893296 intron variant G/T snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs17770343
rs17770343
1.000 0.040 17 45892788 intron variant T/C snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1864325
rs1864325
0.882 0.160 17 45900461 intron variant C/T snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1991556
rs1991556
1.000 0.040 17 46006036 intron variant G/A snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4792891
rs4792891
1.000 0.040 17 45896132 non coding transcript exon variant T/G snv 0.30
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs767057
rs767057
0.925 0.120 17 45921456 intron variant A/G snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs242557
rs242557
0.752 0.200 17 45942346 intron variant G/A snv 0.36
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.060 1.000 6 2010 2017