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: rs387907274
rs387907274
FUS
2 0.925 0.040 16 31189158 stop gained C/T snv 0.050 1.000 5 2013 2016
dbSNP: rs10822974
rs10822974
CTNNA3 ; LRRTM3
1 1.000 0.040 10 67090661 intron variant A/G;T snv 0.020 0.500 2 2017 2018
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: rs1143633
rs1143633
IL1B
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2019 2019
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: rs1472351089
rs1472351089
NTNG1
1 1.000 0.040 1 107480764 missense variant G/A snv 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1721100
rs1721100
FGF20
2 0.925 0.040 8 16992989 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs17550360
rs17550360
FGF20
1 1.000 0.040 8 16993092 missense variant C/A;T snv 4.0E-05; 5.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs177008
rs177008 		1 1.000 0.040 X 125567397 intergenic variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs199608047
rs199608047
KIF5A
1 1.000 0.040 12 57572647 missense variant G/A snv 0.010 1.000 1 2019 2019
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: rs35870237
rs35870237
LRRK2
9 0.763 0.120 12 40340404 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs369753226
rs369753226
NTNG1
1 1.000 0.040 1 107480824 missense variant G/A snv 6.1E-06 0.010 1.000 1 2019 2019
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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
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: rs4690686
rs4690686
SPCS3
1 1.000 0.040 4 176321808 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2016 2016
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: rs7133914
rs7133914
LRRK2
7 0.790 0.120 12 40309109 missense variant G/A;T snv 8.5E-02; 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs7308720
rs7308720
LRRK2
7 0.790 0.120 12 40263898 missense variant C/A;G snv 4.0E-06; 8.7E-02 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: rs755588390
rs755588390
PRKN
7 0.851 0.160 6 162262672 missense variant T/C;G snv 0.010 < 0.001 1 2007 2007
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: rs761288161
rs761288161
NTNG1
1 1.000 0.040 1 107480722 missense variant G/A snv 4.1E-06 0.010 1.000 1 2019 2019