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: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.050 1.000 5 1995 2017
dbSNP: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.040 1.000 4 2003 2014
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.040 1.000 4 1999 2017
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2017 2018
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.020 1.000 2 2016 2016
dbSNP: rs63750066
rs63750066
APP
9 0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05 0.020 1.000 2 2004 2017
dbSNP: rs63750635
rs63750635
MAPT
5 0.851 0.120 17 46014286 missense variant C/T snv 0.020 1.000 2 2002 2003
dbSNP: rs104893875
rs104893875
SNCA
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs104893941
rs104893941
SQSTM1 ; MRNIP
9 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.010 1.000 1 2016 2016
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: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs17070145
rs17070145
WWC1
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.010 < 0.001 1 2009 2009
dbSNP: rs17518584
rs17518584
CADM2
8 0.827 0.160 3 85555773 intron variant C/T snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs1799724
rs1799724
LTA ; TNF
47 0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs1801474
rs1801474
PRKN
4 0.851 0.080 6 162201165 missense variant C/T snv 7.1E-02 5.3E-02 0.010 1.000 1 2020 2020
dbSNP: rs1805054
rs1805054
HTR6
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2001 2001
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs2200733
rs2200733 		12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs267606673
rs267606673
ATP7A ; PGK1
9 0.776 0.240 X 78029314 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs4752293
rs4752293
GRK5
3 0.882 0.080 10 119342186 intron variant C/T snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs5848
rs5848
GRN ; FAM171A2
17 0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs63750324
rs63750324
PSEN1
2 0.925 0.080 14 73198111 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs63750907
rs63750907
PSEN1
6 0.807 0.120 14 73173667 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs63751438
rs63751438
MAPT
16 0.776 0.120 17 46010388 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs7412
rs7412
APOE
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 < 0.001 1 2010 2010