Source: UNIPROT

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: rs63750756
rs63750756
MAPT
0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.900 1.000 20 1998 2019
dbSNP: rs63751273
rs63751273
MAPT
0.645 0.280 17 46010389 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.900 1.000 1 1998 2019
dbSNP: rs63751438
rs63751438
MAPT
0.776 0.120 17 46010388 missense variant C/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.900 1.000 1 1999 2019
dbSNP: rs63750570
rs63750570
MAPT
0.827 0.120 17 46018629 missense variant G/A snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.850 1.000 21 1998 2017
dbSNP: rs63750349
rs63750349
MAPT
0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.830 1.000 21 1998 2010
dbSNP: rs63751165
rs63751165
MAPT
0.925 0.120 17 46010401 missense variant G/A;T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.830 1.000 0 1999 2005
dbSNP: rs63750376
rs63750376
MAPT
0.827 0.120 17 45996657 missense variant G/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.820 0.957 21 1998 2010
dbSNP: rs63750711
rs63750711
MAPT
0.925 0.120 17 46018645 missense variant A/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.810 1.000 21 1998 2010
dbSNP: rs63751399
rs63751399
PSEN1
0.882 0.120 14 73171047 missense variant T/A;C snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.810 1.000 1 2004 2010
dbSNP: rs63750092
rs63750092
MAPT
0.882 0.120 17 46014277 missense variant A/T snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 1.000 20 1998 2005
dbSNP: rs63750416
rs63750416
MAPT
0.851 0.120 17 46010373 missense variant A/C snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.720 1.000 20 1998 2017
dbSNP: rs63750959
rs63750959
MAPT
0.827 0.200 17 45962351 missense variant G/A;T snv 6.0E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.710 1.000 1 2002 2010