Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.900 1.000 39 1998 2019
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.900 1.000 35 1998 2019
dbSNP: rs63750570
rs63750570
MAPT
8 0.827 0.120 17 46018629 missense variant G/A snv 0.850 1.000 26 1998 2017
dbSNP: rs63750349
rs63750349
MAPT
5 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.830 1.000 23 1998 2010
dbSNP: rs63750376
rs63750376
MAPT
7 0.827 0.120 17 45996657 missense variant G/T snv 0.820 0.957 23 1998 2010
dbSNP: rs63750416
rs63750416
MAPT
7 0.851 0.120 17 46010373 missense variant A/C snv 0.720 1.000 21 1998 2017
dbSNP: rs63750711
rs63750711
MAPT
2 0.925 0.120 17 46018645 missense variant A/T snv 0.810 1.000 21 1998 2010
dbSNP: rs63750092
rs63750092
MAPT
3 0.882 0.120 17 46014277 missense variant A/T snv 0.800 1.000 20 1998 2005
dbSNP: rs661
rs661
PSEN1
6 0.807 0.120 14 73217225 missense variant G/A;T snv 4.0E-06 0.700 1.000 17 1995 2017
dbSNP: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.800 1.000 12 2000 2019
dbSNP: rs63751438
rs63751438
MAPT
16 0.776 0.120 17 46010388 missense variant C/T snv 0.900 1.000 12 1999 2019
dbSNP: rs63751011
rs63751011
MAPT
4 0.925 0.120 17 46010418 intron variant C/T snv 0.700 1.000 11 1998 2016
dbSNP: rs63750053
rs63750053
PSEN1
5 0.827 0.120 14 73192721 missense variant G/T snv 0.700 1.000 9 1998 2017
dbSNP: rs63750082
rs63750082
PSEN1
13 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.700 1.000 8 2001 2017
dbSNP: rs63750083
rs63750083
PSEN1
13 0.732 0.160 14 73219177 missense variant C/A;T snv 0.700 1.000 6 2006 2017
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.700 1.000 6 1995 2017
dbSNP: rs63750900
rs63750900
PSEN1
9 0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 6 1996 2017
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.060 0.833 6 2013 2016
dbSNP: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.700 1.000 5 1995 2015
dbSNP: rs143624519
rs143624519
MAPT
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.040 1.000 4 2014 2018
dbSNP: rs1990622
rs1990622 		16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.040 1.000 4 2010 2017
dbSNP: rs5848
rs5848
GRN ; FAM171A2
17 0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41 0.040 1.000 4 2008 2016
dbSNP: rs63750450
rs63750450
PSEN1
4 0.851 0.120 14 73173571 missense variant A/G snv 0.700 1.000 4 1998 2017
dbSNP: rs63751278
rs63751278
PSEN1
6 0.827 0.120 14 73173631 missense variant A/G snv 0.700 1.000 4 1997 2017
dbSNP: rs63751287
rs63751287
PSEN1
13 0.742 0.120 14 73192792 missense variant A/G;T snv 0.710 1.000 4 2001 2018