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: rs63750570
rs63750570
MAPT
8 0.827 0.120 17 46018629 missense variant G/A snv 0.850 1.000 26 1998 2017
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: 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: 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
dbSNP: rs1566650594
rs1566650594
PSEN1
4 0.851 0.120 14 73206384 splice acceptor variant A/T snv 0.700 1.000 3 2010 2017
dbSNP: rs387906711
rs387906711
UBQLN2
6 0.807 0.120 X 56565389 missense variant C/A;T snv 6.6E-06 0.030 1.000 3 2013 2019
dbSNP: rs63751165
rs63751165
MAPT
3 0.925 0.120 17 46010401 missense variant G/A;T snv 0.830 1.000 3 1999 2005
dbSNP: rs80356715
rs80356715
TARDBP
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.030 0.333 3 2012 2017
dbSNP: rs80356726
rs80356726
TARDBP
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.030 1.000 3 2013 2016
dbSNP: rs1291370551
rs1291370551
GRN
3 0.882 0.120 17 44349468 missense variant T/G snv 4.0E-06 0.020 1.000 2 2015 2018
dbSNP: rs387906709
rs387906709
UBQLN2
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.020 1.000 2 2019 2019
dbSNP: rs63751294
rs63751294
GRN
6 0.827 0.120 17 44352404 stop gained C/T snv 8.0E-06 0.020 1.000 2 2006 2008
dbSNP: rs63751399
rs63751399
PSEN1
3 0.882 0.120 14 73171047 missense variant T/A;C snv 0.810 1.000 2 2004 2010
dbSNP: rs778264897
rs778264897
CCNF
2 0.925 0.120 16 2455540 missense variant A/G snv 3.2E-05 7.0E-05 0.020 1.000 2 2017 2018
dbSNP: rs10101195
rs10101195 		1 1.000 0.120 8 11765703 upstream gene variant C/A snv 0.31 0.700 1.000 1 2018 2018