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: rs832032
rs832032
GABRR3
2 1.000 0.040 3 98007903 stop gained A/G;T snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs3794087
rs3794087
SLC1A2
6 0.851 0.120 11 35308068 intron variant G/T snv 0.20 0.900 0.500 10 2012 2018
dbSNP: rs1521179
rs1521179
LINGO4
1 1.000 0.040 1 151800911 3 prime UTR variant G/A snv 0.10 5.3E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs61746299
rs61746299
LINGO4
1 1.000 0.040 1 151801375 missense variant T/A;C snv 9.9E-02; 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs387907274
rs387907274
FUS
2 0.925 0.040 16 31189158 stop gained C/T snv 0.050 1.000 5 2013 2016
dbSNP: rs186547381
rs186547381
FUS
2 0.925 0.040 16 31190398 missense variant C/T snv 1.2E-04 1.6E-04 0.010 1.000 1 2013 2013
dbSNP: rs2271397
rs2271397
LINGO1 ; LOC105370906
1 1.000 0.040 15 77615433 synonymous variant T/A;C snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs267606832
rs267606832
FUS
3 0.882 0.040 16 31185061 missense variant C/G;T snv 1.3E-04; 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs751937417
rs751937417
FUS
2 0.925 0.040 16 31190282 missense variant G/A snv 7.6E-05 4.9E-05 0.010 1.000 1 2013 2013
dbSNP: rs1052553
rs1052553
MAPT
8 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 0.020 0.500 2 2014 2016
dbSNP: rs72470545
rs72470545
HTRA2 ; LOXL3
6 0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03 0.020 1.000 2 2014 2017
dbSNP: rs138287627
rs138287627
EWSR1
1 1.000 0.040 22 29297943 missense variant C/T snv 6.8E-05 9.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs766187715
rs766187715
FUS
1 1.000 0.040 16 31190102 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs914056789
rs914056789
FUS
1 1.000 0.040 16 31190983 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1051308
rs1051308
HMOX2 ; CDIP1
3 0.882 0.080 16 4510300 3 prime UTR variant G/A snv 0.54 0.020 0.500 2 2015 2017
dbSNP: rs2071746
rs2071746
HMOX1
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.020 1.000 2 2015 2017
dbSNP: rs33949390
rs33949390
LRRK2
9 0.776 0.160 12 40320043 missense variant G/A;C;T snv 1.6E-04; 1.9E-03; 8.0E-06 0.020 0.500 2 2015 2018
dbSNP: rs387907571
rs387907571
DNAJC13
6 0.827 0.080 3 132477995 missense variant A/G snv 4.2E-06 3.5E-05 0.710 1.000 1 2015 2015
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 1.000 1 2015 2015
dbSNP: rs10937625
rs10937625
STK32B
1 1.000 0.040 4 5126432 intron variant T/C snv 0.24 0.730 1.000 3 2016 2018
dbSNP: rs12764057
rs12764057
CTNNA3 ; LRRTM3
1 1.000 0.040 10 67085957 intron variant T/G snv 0.35 0.720 0.667 3 2016 2018
dbSNP: rs17590046
rs17590046
PPARGC1A
1 1.000 0.040 4 24360918 intergenic variant T/C snv 0.18 0.730 0.667 3 2016 2018
dbSNP: rs10109552
rs10109552 		1 1.000 0.040 8 18451300 intergenic variant T/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs12720208
rs12720208
FGF20
3 0.925 0.040 8 16992890 3 prime UTR variant G/A snv 5.5E-02 0.010 1.000 1 2016 2016