MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Neurodegenerative Disorders ×
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: rs143624519
rs143624519 		0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.030 0.667 3 2012 2019
dbSNP: rs63751438
rs63751438 		0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.020 1.000 2 2014 2019
dbSNP: rs1052553
rs1052553 		0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2435200
rs2435200 		0.925 0.080 17 45994485 intron variant G/A snv 0.40
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2435211
rs2435211 		17 45985878 intron variant C/G;T snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs63750376
rs63750376 		0.827 0.120 17 45996657 missense variant G/T snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs63750570
rs63750570 		0.827 0.120 17 46018629 missense variant G/A snv
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs63750756
rs63750756 		0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs63750869
rs63750869 		0.827 0.160 17 46018707 missense variant G/A snv 2.4E-05 5.6E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9468
rs9468 		0.882 0.080 17 46024197 3 prime UTR variant T/C snv 0.15 0.14
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2012 2012