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: rs63751011
rs63751011
0.925 0.120 17 46010418 intron variant C/T snv
CUI: C0233794
Disease: Memory impairment
Memory impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs63751273
rs63751273
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0233794
Disease: Memory impairment
Memory impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.030 1.000 3 2012 2017
dbSNP: rs63750424
rs63750424
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C0233794
Disease: Memory impairment
Memory impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.020 1.000 2 2002 2018
dbSNP: rs767543900
rs767543900
0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06
CUI: C0233794
Disease: Memory impairment
Memory impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019