MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Parkinson Disease ×
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: 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
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: 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: 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
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