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: rs767379602
rs767379602
VCP
3 0.882 0.120 9 35060823 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs866604606
rs866604606
MAPK1
4 0.882 0.120 22 21772907 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs63750635
rs63750635
MAPT
5 0.851 0.120 17 46014286 missense variant C/T snv 0.810 1.000 5 1999 2002
dbSNP: rs63750450
rs63750450
PSEN1
4 0.851 0.120 14 73173571 missense variant A/G snv 0.700 1.000 4 1998 2017
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: rs63750349
rs63750349
MAPT
5 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.030 1.000 3 2003 2007
dbSNP: rs121909331
rs121909331
VCP
5 0.851 0.200 9 35064167 missense variant G/T snv 0.020 1.000 2 2009 2012
dbSNP: rs63750416
rs63750416
MAPT
7 0.851 0.120 17 46010373 missense variant A/C snv 0.020 1.000 2 2001 2017
dbSNP: rs1314736087
rs1314736087
SYBU
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs544706237
rs544706237
REG1A
5 0.851 0.120 2 79121649 missense variant A/G;T snv 8.0E-06; 5.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs747019990
rs747019990
PRNP
4 0.851 0.120 20 4699336 missense variant C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs747105516
rs747105516
PSPH
5 0.851 0.120 7 56015139 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs747481280
rs747481280
OPTN
4 0.851 0.120 10 13132068 missense variant T/G snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs63750053
rs63750053
PSEN1
5 0.827 0.120 14 73192721 missense variant G/T snv 0.700 1.000 9 1998 2017
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: rs63751278
rs63751278
PSEN1
6 0.827 0.120 14 73173631 missense variant A/G snv 0.700 1.000 4 1997 2017
dbSNP: rs63750376
rs63750376
MAPT
7 0.827 0.120 17 45996657 missense variant G/T snv 0.020 1.000 2 2003 2005
dbSNP: rs63750570
rs63750570
MAPT
8 0.827 0.120 17 46018629 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs63750869
rs63750869
MAPT
6 0.827 0.160 17 46018707 missense variant G/A snv 2.4E-05 5.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs63750959
rs63750959
MAPT
5 0.827 0.200 17 45962351 missense variant G/A;T snv 6.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs63751068
rs63751068
PSEN1
6 0.827 0.120 14 73186920 missense variant G/C;T snv 0.810 1.000 1 2014 2014
dbSNP: rs63751294
rs63751294
GRN
6 0.827 0.120 17 44352404 stop gained C/T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs63749836
rs63749836
PSEN1
5 0.827 0.160 14 73192786 missense variant G/A 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: rs3173615
rs3173615
TMEM106B
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2013 2013