Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750959
rs63750959
MAPT
0.827 0.200 17 45962351 missense variant G/A;T snv 6.0E-05
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.800 0
dbSNP: rs63751391
rs63751391
MAPT
0.882 0.120 17 46010395 missense variant G/T snv
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.800 0
dbSNP: rs1568327531
rs1568327531
MAPT
1.000 0.120 17 46010403 splice donor variant G/A snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0
dbSNP: rs1568339821
rs1568339821
MAPT
1.000 0.120 17 46018672 missense variant A/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0
dbSNP: rs1568339995
rs1568339995
MAPT
1.000 0.080 17 46018704 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 0
dbSNP: rs63750308
rs63750308
MAPT
1.000 0.120 17 46010415 intron variant A/G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 0
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs63750424
rs63750424
MAPT
0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05
CUI: C1850077
Disease: Supranuclear Palsy, Progressive, 1, Atypical
Supranuclear Palsy, Progressive, 1, Atypical 		0.700 0
dbSNP: rs63750425
rs63750425
MAPT
1.000 0.120 17 46018675 missense variant C/T snv 7.0E-06
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 0
dbSNP: rs63750635
rs63750635
MAPT
0.851 0.120 17 46014286 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0
dbSNP: rs63750756
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C1850077
Disease: Supranuclear Palsy, Progressive, 1, Atypical
Supranuclear Palsy, Progressive, 1, Atypical 		0.700 0
dbSNP: rs63750756
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs63750756
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 0
dbSNP: rs63750912
rs63750912
MAPT
1.000 0.120 17 46010375 synonymous variant T/C snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0
dbSNP: rs63750972
rs63750972
MAPT
1.000 0.120 17 46010416 intron variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0
dbSNP: rs63751011
rs63751011
MAPT
0.925 0.120 17 46010418 intron variant C/T snv
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.700 0
dbSNP: rs63751011
rs63751011
MAPT
0.925 0.120 17 46010418 intron variant C/T snv
CUI: C0497327
Disease: Dementia
Dementia 		0.700 0
dbSNP: rs63751011
rs63751011
MAPT
0.925 0.120 17 46010418 intron variant C/T snv
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.700 0
dbSNP: rs63751273
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C1850077
Disease: Supranuclear Palsy, Progressive, 1, Atypical
Supranuclear Palsy, Progressive, 1, Atypical 		0.700 0
dbSNP: rs63751273
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs63751273
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
Supranuclear Palsy, Progressive, 1 		0.700 0
dbSNP: rs63751392
rs63751392
MAPT
0.925 0.120 17 46010371 inframe deletion ATA/- delins
CUI: C1850077
Disease: Supranuclear Palsy, Progressive, 1, Atypical
Supranuclear Palsy, Progressive, 1, Atypical 		0.700 0
dbSNP: rs63751392
rs63751392
MAPT
0.925 0.120 17 46010371 inframe deletion ATA/- delins
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs63751394
rs63751394
MAPT
1.000 0.120 17 46010413 intron variant T/C snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 0