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: rs63749824
rs63749824
PSEN1
8 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs63749836
rs63749836
PSEN1
5 0.827 0.160 14 73192786 missense variant G/A snv 0.700 0
dbSNP: rs63750590
rs63750590
PSEN1
10 0.790 0.120 14 73186860 missense variant A/G snv 0.700 0
dbSNP: rs63751223
rs63751223
PSEN1
6 0.807 0.160 14 73219161 missense variant G/C snv 0.700 0
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: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.700 1.000 6 1995 2017
dbSNP: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.700 1.000 5 1995 2015
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: rs63751278
rs63751278
PSEN1
6 0.827 0.120 14 73173631 missense variant A/G snv 0.700 1.000 4 1997 2017
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.800 1.000 11 1998 2019
dbSNP: rs63750053
rs63750053
PSEN1
5 0.827 0.120 14 73192721 missense variant G/T snv 0.700 1.000 9 1998 2017
dbSNP: rs63750450
rs63750450
PSEN1
4 0.851 0.120 14 73173571 missense variant A/G snv 0.700 1.000 4 1998 2017
dbSNP: rs63751438
rs63751438
MAPT
16 0.776 0.120 17 46010388 missense variant C/T snv 0.080 1.000 8 1999 2017
dbSNP: rs63750129
rs63750129
MAPT
4 0.882 0.120 17 45996612 missense variant A/C snv 4.0E-06 0.820 1.000 6 1999 2008
dbSNP: rs63750512
rs63750512
MAPT
6 0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05 0.820 1.000 6 1999 2002
dbSNP: rs63750635
rs63750635
MAPT
5 0.851 0.120 17 46014286 missense variant C/T snv 0.810 1.000 5 1999 2002
dbSNP: rs63751165
rs63751165
MAPT
3 0.925 0.120 17 46010401 missense variant G/A;T snv 0.030 1.000 3 1999 2005
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.800 1.000 11 2000 2019
dbSNP: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.760 1.000 6 2000 2019
dbSNP: rs139108915
rs139108915
PAX5
3 0.925 0.120 9 36840599 missense variant G/A snv 1.0E-05 9.8E-05 0.010 1.000 1 2000 2000
dbSNP: rs63750711
rs63750711
MAPT
2 0.925 0.120 17 46018645 missense variant A/T snv 0.010 1.000 1 2000 2000
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: rs63751287
rs63751287
PSEN1
13 0.742 0.120 14 73192792 missense variant A/G;T snv 0.700 1.000 3 2001 2018
dbSNP: rs63750416
rs63750416
MAPT
7 0.851 0.120 17 46010373 missense variant A/C snv 0.020 1.000 2 2001 2017
dbSNP: rs63751264
rs63751264
MAPT
2 0.925 0.120 17 46018726 missense variant A/T snv 0.810 1.000 1 2001 2001