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: rs10101195
rs10101195 		1 1.000 0.120 8 11765703 upstream gene variant C/A snv 0.31 0.700 1.000 1 2018 2018
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: rs1026683055
rs1026683055
GRN
3 0.882 0.200 17 44351429 missense variant C/T snv 1.6E-05 1.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs1038579230
rs1038579230
VCP
3 0.882 0.200 9 35067913 missense variant C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1048775
rs1048775
TEPSIN ; LOC105371925
1 1.000 0.120 17 81228529 3 prime UTR variant G/C snv 0.42 0.700 1.000 1 2015 2015
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1050210428
rs1050210428
MAPT
2 0.925 0.120 17 45983258 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1057518919
rs1057518919
PSEN1
5 0.851 0.120 14 73171023 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1085307051
rs1085307051
MEF2C ; MEF2C-AS1
5 0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del 0.700 0
dbSNP: rs1157289563
rs1157289563
ELP1
2 0.925 0.120 9 108881749 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs1181028283
rs1181028283
C22orf15 ; CHCHD10
2 0.925 0.120 22 23766215 stop gained G/A snv 4.3E-06 0.010 1.000 1 2017 2017
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: rs1189501362
rs1189501362
GSK3B
4 0.882 0.120 3 119863583 missense variant G/A snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1205185774
rs1205185774
AHSA1
4 0.882 0.120 14 77469161 missense variant C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs121909329
rs121909329
VCP
11 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.020 1.000 2 2008 2009
dbSNP: rs121909330
rs121909330
VCP
11 0.752 0.200 9 35065364 missense variant G/A;C;T snv 0.030 1.000 3 2005 2012
dbSNP: rs121909331
rs121909331
VCP
5 0.851 0.200 9 35064167 missense variant G/T snv 0.020 1.000 2 2009 2012
dbSNP: rs121909334
rs121909334
VCP
10 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs121909335
rs121909335
VCP
9 0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs121909345
rs121909345
DCTN1
4 0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1223904774
rs1223904774
APP
8 0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1235948930
rs1235948930
MAPT
4 0.882 0.120 17 45983865 missense variant C/T snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1251696640
rs1251696640
TIA1 ; C2orf42
2 0.925 0.120 2 70212763 missense variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1254158201
rs1254158201
SQSTM1 ; MRNIP
1 1.000 0.120 5 179836453 frameshift variant -/T delins 4.0E-06 0.010 1.000 1 2016 2016