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: rs1012826460
rs1012826460
MAPT
2 0.925 0.120 17 45971888 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1295855402
rs1295855402
MAPT
2 0.925 0.120 17 46024034 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1401496725
rs1401496725
REG1A
2 0.925 0.120 2 79121657 missense variant C/G;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1417373701
rs1417373701
SLCO6A1
2 0.925 0.120 5 102399606 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1804469
rs1804469
MSMB ; LOC105378287
2 0.925 0.120 10 46033495 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs63750711
rs63750711
MAPT
2 0.925 0.120 17 46018645 missense variant A/T snv 0.010 1.000 1 2000 2000
dbSNP: rs63751264
rs63751264
MAPT
2 0.925 0.120 17 46018726 missense variant A/T snv 0.810 1.000 1 2001 2001
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: 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: rs773403329
rs773403329
SLCO6A1
2 0.925 0.120 5 102419925 missense variant A/G snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs774890160
rs774890160
MAPT
2 0.925 0.120 17 45974388 missense variant T/C snv 4.2E-06 0.010 1.000 1 2010 2010
dbSNP: rs964520949
rs964520949
PSPH
2 0.925 0.120 7 56019715 missense variant C/T snv 2.2E-04; 4.0E-06 1.9E-04 0.010 1.000 1 2013 2013
dbSNP: rs9897526
rs9897526
GRN
2 0.925 0.120 17 44349572 non coding transcript exon variant G/A;C snv 0.16 0.010 1.000 1 2011 2011
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: rs1182182524
rs1182182524
MAPT
3 0.882 0.120 17 45983724 missense variant T/G snv 1.4E-05 0.010 1.000 1 2016 2016
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: rs1595014
rs1595014 		3 0.882 0.120 7 12148903 intergenic variant T/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs63750487
rs63750487
PSEN1
3 0.882 0.120 14 73192771 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs63750573
rs63750573
MAPT
3 0.882 0.120 17 46018627 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs63750905
rs63750905
MAPT
3 0.882 0.120 17 46018624 missense variant G/T snv 0.010 1.000 1 2005 2005
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: 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: 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: 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