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: 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: 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: rs1433515721
rs1433515721
1.000 0.040 17 45996618 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs143624519
rs143624519
0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1461089499
rs1461089499
1.000 0.040 17 46023990 missense variant C/T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs17563965
rs17563965
1.000 0.040 17 45913553 intron variant A/G snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs17649641
rs17649641
0.925 0.120 17 45920006 intron variant T/C snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2435200
rs2435200
0.925 0.080 17 45994485 intron variant G/A snv 0.40
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2435207
rs2435207
1.000 0.040 17 45981562 intron variant G/A snv 0.30
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs2471738
rs2471738
0.882 0.160 17 45998697 intron variant C/T snv 0.18
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2017 2017
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