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: rs137853058
rs137853058
PRKN
3 0.882 0.120 6 161973401 missense variant C/T snv 1.2E-05 0.020 1.000 2 2002 2002
dbSNP: rs1816
rs1816
KANSL1
3 0.882 0.200 17 46199252 intron variant A/G snv 0.14 0.010 1.000 1 2002 2002
dbSNP: rs63751391
rs63751391
MAPT
3 0.882 0.120 17 46010395 missense variant G/T snv 0.010 1.000 1 2005 2005
dbSNP: rs1801582
rs1801582
PRKN
3 0.925 0.120 6 161386823 missense variant C/G;T snv 0.16; 3.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs76980269
rs76980269
NOS1
10 0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.800 1.000 1 2011 2011
dbSNP: rs2142991
rs2142991 		1 1.000 0.120 10 42845657 intergenic variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs63749855
rs63749855
MAPT
8 0.790 0.200 17 46014271 missense variant T/G snv 0.010 1.000 1 2011 2011
dbSNP: rs6547705
rs6547705
CD8B ; LOC105374846
1 1.000 0.120 2 86817193 intron variant G/A snv 0.83 0.800 1.000 1 2011 2011
dbSNP: rs6852535
rs6852535 		1 1.000 0.120 4 122557561 intergenic variant G/A snv 0.24 0.800 1.000 1 2011 2011
dbSNP: rs7571971
rs7571971
EIF2AK3
2 1.000 0.120 2 88595833 non coding transcript exon variant T/C snv 0.70 0.77 0.800 1.000 1 2011 2011
dbSNP: rs11568563
rs11568563
SLCO1A2
2 0.925 0.240 12 21304500 missense variant T/G snv 4.5E-02 4.4E-02 0.810 1.000 2 2011 2012
dbSNP: rs1411478
rs1411478
STX6
3 0.925 0.120 1 180993146 intron variant A/G snv 0.56 0.810 1.000 2 2011 2013
dbSNP: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs1768208
rs1768208
MOBP
4 0.851 0.200 3 39481512 intron variant T/C snv 0.76 0.830 1.000 4 2011 2016
dbSNP: rs8070723
rs8070723
MAPT
7 0.851 0.240 17 46003698 intron variant A/G snv 0.18 0.810 1.000 2 2011 2016
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: rs1425322249
rs1425322249
LNPEP
1 1.000 0.120 5 96979369 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs368453549
rs368453549
BRD4
1 1.000 0.120 19 15272936 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs566433112
rs566433112
DCTN1
1 1.000 0.120 2 74378112 missense variant T/C snv 1.6E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs746389377
rs746389377
SORBS1
1 1.000 0.120 10 95384258 missense variant C/T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs762046989
rs762046989
MAPT
5 0.851 0.200 17 45971867 missense variant C/G snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs762104961
rs762104961
MAPT
3 0.882 0.200 17 46024014 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016