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: 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: 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: rs367543041
rs367543041
TARDBP
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs533813519
rs533813519
PSEN2
5 0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2005 2005
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: rs121909345
rs121909345
DCTN1
4 0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05 0.010 1.000 1 2005 2005
dbSNP: rs1251696640
rs1251696640
TIA1 ; C2orf42
2 0.925 0.120 2 70212763 missense variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs13393316
rs13393316
NDUFS1
1 1.000 0.120 2 206134615 intron variant A/G snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs1401496725
rs1401496725
REG1A
2 0.925 0.120 2 79121657 missense variant C/G;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs17042852
rs17042852
LOC730100 ; LINC01867
1 1.000 0.120 2 52372929 intron variant T/C snv 3.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs544706237
rs544706237
REG1A
5 0.851 0.120 2 79121649 missense variant A/G;T snv 8.0E-06; 5.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs757332023
rs757332023
TIA1 ; C2orf42
2 0.925 0.120 2 70212795 missense variant G/A snv 2.0E-05 0.010 1.000 1 2017 2017
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: rs1189501362
rs1189501362
GSK3B
4 0.882 0.120 3 119863583 missense variant G/A snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs13072484
rs13072484 		1 1.000 0.120 3 197409951 intergenic variant G/A snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs6809184
rs6809184
TNIK
1 1.000 0.120 3 171170409 intron variant C/T snv 6.2E-02 0.700 1.000 1 2018 2018
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: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1254158201
rs1254158201
SQSTM1 ; MRNIP
1 1.000 0.120 5 179836453 frameshift variant -/T delins 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1417373701
rs1417373701
SLCO6A1
2 0.925 0.120 5 102399606 missense variant G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs538622
rs538622
ERGIC1
2 0.925 0.120 5 172920676 intron variant A/G snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs773403329
rs773403329
SLCO6A1
2 0.925 0.120 5 102419925 missense variant A/G snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs981951447
rs981951447
RASA1
2 0.925 0.120 5 87268726 missense variant C/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs1085307051
rs1085307051
MEF2C ; MEF2C-AS1
5 0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del 0.700 0