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: rs3785880
rs3785880
1.000 0.040 17 45916010 intron variant T/G snv 0.40
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3785883
rs3785883
0.925 0.080 17 45977067 non coding transcript exon variant A/G snv 0.81
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs7521
rs7521
0.925 0.080 17 46028029 3 prime UTR variant A/C;G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs767543900
rs767543900
0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs769851761
rs769851761
1.000 0.040 17 46024136 missense variant G/A snv 8.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs242562
rs242562
1.000 0.040 17 45949373 intron variant G/A snv 0.35
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.020 0.500 2 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: rs9468
rs9468
0.882 0.080 17 46024197 3 prime UTR variant T/C snv 0.15 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.030 1.000 3 2012 2019
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: 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: 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