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: 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: 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: rs34410987
rs34410987
LRRK2
3 0.882 0.040 12 40283897 missense variant C/T snv 7.4E-04 2.2E-04 0.020 0.500 2 2007 2018
dbSNP: rs7903491
rs7903491
CTNNA3
1 1.000 0.040 10 67157406 intron variant A/G snv 0.63 0.020 1.000 2 2017 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: rs10812774
rs10812774
LINGO2
2 0.925 0.040 9 28294233 intron variant T/C snv 0.49 0.010 1.000 1 2011 2011
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: rs1186902
rs1186902
GABRR1
2 1.000 0.040 6 89217243 missense variant T/C snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs12200969
rs12200969
GABRR1
1 1.000 0.040 6 89217247 missense variant T/C snv 0.31 0.37 0.010 1.000 1 2011 2011
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
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: 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: rs146603794
rs146603794
GABRR1
1 1.000 0.040 6 89198164 missense variant A/G snv 5.2E-04 2.1E-04 0.010 1.000 1 2011 2011
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: 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: 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: 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: 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