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: rs63750349
rs63750349
MAPT
5 0.851 0.200 17 45996638 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2006 2006
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: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 1.000 2 2007 2008
dbSNP: rs4795541
rs4795541
SLC6A4 ; LOC105371720
7 0.807 0.200 17 30237299 upstream gene variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs63750355
rs63750355
CHMP2B
5 0.827 0.160 3 87253472 stop gained C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs63750541
rs63750541
GRN
4 0.851 0.160 17 44351586 missense variant G/A;C snv 8.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs753070659
rs753070659
GRN
4 0.851 0.160 17 44350481 missense variant G/A;C snv 1.2E-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 0.020 1.000 2 2008 2009
dbSNP: rs1133763
rs1133763
CCL8
4 0.882 0.200 17 34320812 missense variant A/C snv 0.21 0.15 0.010 1.000 1 2009 2009
dbSNP: rs1163763
rs1163763 		2 0.925 0.120 12 17567834 intron variant G/T snv 0.24 0.010 1.000 1 2009 2009
dbSNP: rs121909335
rs121909335
VCP
9 0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2009 2009
dbSNP: rs4859147
rs4859147
DCUN1D1
1 1.000 0.120 3 182964065 intron variant T/C snv 0.56 0.48 0.010 1.000 1 2009 2009
dbSNP: rs750444386
rs750444386
NOS1
6 0.807 0.360 12 117268082 synonymous variant C/A;T snv 4.0E-06; 5.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs1052352
rs1052352
FUS
2 0.925 0.120 16 31183958 synonymous variant C/T snv 0.53 0.45 0.010 1.000 1 2010 2010
dbSNP: rs10814083
rs10814083
KIF24
3 0.882 0.160 9 34256349 synonymous variant C/T snv 0.40 0.34 0.010 1.000 1 2010 2010
dbSNP: rs17350674
rs17350674
KIF24
1 1.000 0.120 9 34306412 stop gained C/A;T snv 0.16; 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.010 1.000 1 2010 2010
dbSNP: rs741810
rs741810
FUS
2 0.925 0.120 16 31182621 synonymous variant C/A;G;T snv 0.32; 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs752076094
rs752076094
FUS
2 0.925 0.120 16 31185175 missense variant A/G snv 8.4E-06 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs63751243
rs63751243
GRN
4 0.882 0.160 17 44349190 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs706118
rs706118
BAG1
1 1.000 0.120 9 33256181 intron variant T/G snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs7967622
rs7967622
HNRNPA1
1 1.000 0.120 12 54284196 intron variant C/T snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs1415210991
rs1415210991
BDNF
1 1.000 0.120 11 27701003 5 prime UTR variant G/C snv 4.2E-06 0.010 1.000 1 2012 2012