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: rs9897526
rs9897526
GRN
2 0.925 0.120 17 44349572 non coding transcript exon variant G/A;C snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs981951447
rs981951447
RASA1
2 0.925 0.120 5 87268726 missense variant C/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs9792144
rs9792144
ST18
1 1.000 0.120 8 52168991 intron variant C/G snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs969413
rs969413
CEP131
1 1.000 0.120 17 81222014 intron variant T/A snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs964520949
rs964520949
PSPH
2 0.925 0.120 7 56019715 missense variant C/T snv 2.2E-04; 4.0E-06 1.9E-04 0.010 1.000 1 2013 2013
dbSNP: rs9319617
rs9319617
CEP131
1 1.000 0.120 17 81218646 intron variant T/C snv 0.47 0.700 1.000 1 2015 2015
dbSNP: rs9268877
rs9268877
HLA-DRB9
5 0.827 0.200 6 32463370 intron variant A/G;T snv 0.710 1.000 2 2014 2017
dbSNP: rs9268856
rs9268856
HLA-DRB9
6 0.807 0.240 6 32461942 intron variant C/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs906175
rs906175
CEP131
1 1.000 0.120 17 81199662 non coding transcript exon variant C/T snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs901115236
rs901115236
CHCHD10 ; LOC107985577
3 0.882 0.120 22 23767531 missense variant G/A;T snv 1.5E-05; 1.5E-05 0.010 1.000 1 2017 2017
dbSNP: rs867403430
rs867403430
UBE2V1 ; TMEM189-UBE2V1
1 1.000 0.120 20 50113113 missense variant C/A snv 0.010 1.000 1 2018 2018
dbSNP: rs866802945
rs866802945
MAPT
1 1.000 0.120 17 45983229 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs866604606
rs866604606
MAPK1
4 0.882 0.120 22 21772907 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs863225291
rs863225291
VCP
3 0.925 0.200 9 35067922 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs80356730
rs80356730
TARDBP
7 0.807 0.120 1 11022418 missense variant A/G snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs80356726
rs80356726
TARDBP
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.030 1.000 3 2013 2016
dbSNP: rs80356715
rs80356715
TARDBP
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.030 0.333 3 2012 2017
dbSNP: rs794729672
rs794729672
GRN
1 1.000 0.120 17 44349249 frameshift variant -/C delins 0.700 0
dbSNP: rs794729671
rs794729671
GRN
1 1.000 0.120 17 44352080 frameshift variant -/T delins 0.700 0
dbSNP: rs794729670
rs794729670
GRN
1 1.000 0.120 17 44351409 stop gained T/C;G snv 0.700 0
dbSNP: rs794729669
rs794729669
GRN
1 1.000 0.120 17 44350341 splice donor variant G/C snv 0.700 0
dbSNP: rs78268395
rs78268395
CHMP2B
1 1.000 0.120 3 87253740 missense variant G/A snv 1.5E-03 6.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs781587642
rs781587642
TUBA4A ; STK16
6 0.851 0.120 2 219250557 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs7791726
rs7791726
TMEM106B
1 1.000 0.120 7 12243703 downstream gene variant G/C snv 0.52 0.700 1.000 1 2018 2018