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: rs387906709
rs387906709
UBQLN2
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs387906711
rs387906711
UBQLN2
6 0.807 0.120 X 56565389 missense variant C/A;T snv 6.6E-06 0.010 1.000 1 2019 2019
dbSNP: rs387906789
rs387906789
VCP
14 0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2012 2012
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: rs63749855
rs63749855
MAPT
8 0.790 0.200 17 46014271 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs63750066
rs63750066
APP
9 0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs63750487
rs63750487
PSEN1
3 0.882 0.120 14 73192771 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs63750570
rs63750570
MAPT
8 0.827 0.120 17 46018629 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs63750573
rs63750573
MAPT
3 0.882 0.120 17 46018627 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs63750711
rs63750711
MAPT
2 0.925 0.120 17 46018645 missense variant A/T snv 0.010 1.000 1 2000 2000
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: rs63750905
rs63750905
MAPT
3 0.882 0.120 17 46018624 missense variant G/T snv 0.010 1.000 1 2005 2005
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: 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: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs74315452
rs74315452
SOD1
12 0.732 0.160 21 31667356 missense variant T/C snv 0.010 1.000 1 2012 2012
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: rs751739883
rs751739883
MAPT
2 0.925 0.120 17 45983891 missense variant C/T snv 4.4E-06 0.010 1.000 1 2018 2018
dbSNP: rs760049824
rs760049824
MAPT
3 0.882 0.120 17 45983867 missense variant T/A;C snv 4.2E-06; 8.5E-06 0.010 1.000 1 2010 2010
dbSNP: rs767076633
rs767076633
TBK1
2 0.925 0.120 12 64484311 missense variant T/C snv 1.2E-05 0.010 1.000 1 2019 2019
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: rs767543900
rs767543900
MAPT
10 0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 0.010 < 0.001 1 2017 2017