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: rs66468541
rs66468541
HSPD1
4 0.925 0.080 2 197497275 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs752933837
rs752933837
PRKCG
2 1.000 0.080 19 53906776 missense variant C/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs9468
rs9468
MAPT
6 0.882 0.080 17 46024197 3 prime UTR variant T/C snv 0.15 0.14 0.010 1.000 1 2012 2012
dbSNP: rs387907043
rs387907043
DNAJC5
3 0.925 0.120 20 63930873 missense variant T/A;G snv 4.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs63751438
rs63751438
MAPT
16 0.776 0.120 17 46010388 missense variant C/T snv 0.020 1.000 2 2014 2019
dbSNP: rs104893875
rs104893875
SNCA
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1178466848
rs1178466848
PRNP
4 0.925 0.120 20 4699785 missense variant G/A snv 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs121917767
rs121917767
UCHL1
6 0.827 0.120 4 41260751 missense variant C/A;G;T snv 4.0E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.010 < 0.001 1 2005 2005
dbSNP: rs34015634
rs34015634
LRRK2
8 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs35801418
rs35801418
LRRK2
7 0.827 0.120 12 40321114 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs407135
rs407135
SLC11A2
3 0.925 0.120 12 51017570 intron variant G/T snv 0.74 0.010 1.000 1 2011 2011
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 2015 2015
dbSNP: rs63750376
rs63750376
MAPT
7 0.827 0.120 17 45996657 missense variant G/T snv 0.010 1.000 1 2004 2004
dbSNP: rs63750570
rs63750570
MAPT
8 0.827 0.120 17 46018629 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs63751068
rs63751068
PSEN1
6 0.827 0.120 14 73186920 missense variant G/C;T snv 0.010 1.000 1 2004 2004
dbSNP: rs63751177
rs63751177
GRN
2 1.000 0.120 17 44351438 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs63751294
rs63751294
GRN
6 0.827 0.120 17 44352404 stop gained C/T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2002 2003
dbSNP: rs1049564
rs1049564
PNP
6 0.882 0.160 14 20472447 missense variant G/A snv 0.19 0.21 0.010 1.000 1 2007 2007
dbSNP: rs121909715
rs121909715
GSN
8 0.790 0.160 9 121310819 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1272951905
rs1272951905
MTHFSD
3 0.925 0.160 16 86532210 missense variant C/T snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs200161705
rs200161705
NEK1
5 0.882 0.160 4 169585374 missense variant C/A;T snv 6.0E-05; 2.3E-03 0.010 1.000 1 2019 2019