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: rs177008
rs177008 		1 1.000 0.040 X 125567397 intergenic variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs3810651
rs3810651
GABRQ ; LOC105373370
4 0.925 0.080 X 152652814 missense variant A/C;T snv 0.010 1.000 1 2011 2011
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: 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: rs2071747
rs2071747
HMOX1
4 0.851 0.120 22 35381192 missense variant G/C snv 4.3E-02 4.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs16976358
rs16976358
LINC00907
6 0.827 0.080 18 42611606 intron variant T/C snv 1.0E-02 0.010 1.000 1 2017 2017
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: rs116920450
rs116920450
CACNA1G
1 1.000 0.040 17 50575769 missense variant G/A;T snv 6.8E-03; 6.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs387907274
rs387907274
FUS
2 0.925 0.040 16 31189158 stop gained C/T snv 0.050 1.000 5 2013 2016
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: 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: rs2270363
rs2270363
HMOX2 ; NMRAL1
3 0.882 0.080 16 4476291 5 prime UTR variant A/G snv 0.74 0.010 1.000 1 2017 2017
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: rs34090186
rs34090186
MC1R
3 0.882 0.080 16 89919458 missense variant G/A snv 9.6E-04 2.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs748723559
rs748723559
KARS1
1 1.000 0.040 16 75630480 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
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: 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: rs9652490
rs9652490
LINGO1
4 0.851 0.080 15 77671545 intron variant A/G snv 0.28 0.900 0.714 14 2009 2016
dbSNP: rs11856808
rs11856808
LINGO1
5 0.827 0.120 15 77680428 intron variant C/T snv 0.42 0.030 0.667 3 2010 2012
dbSNP: rs13313467
rs13313467
LINGO1
1 1.000 0.040 15 77673826 intron variant C/A snv 0.28 0.010 1.000 1 2010 2010
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: rs2924835
rs2924835
LRRK1 ; LOC105371026
1 1.000 0.040 15 101066684 missense variant G/A snv 0.31 0.25 0.010 < 0.001 1 2018 2018
dbSNP: rs8028808
rs8028808
LINGO1
1 1.000 0.040 15 77675074 intron variant G/A snv 0.23 0.010 1.000 1 2010 2010
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