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: rs11590421
rs11590421
LOC105378658
4 0.851 0.080 1 38528443 intergenic variant G/A snv 0.15 0.700 1.000 1 2014 2014
dbSNP: rs1465567777
rs1465567777
UBQLN4
1 1.000 0.080 1 156051319 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs17162257
rs17162257 		4 0.851 0.080 1 26602511 upstream gene variant T/A;G snv 0.700 1.000 1 2014 2014
dbSNP: rs2412208
rs2412208
CAMTA1
5 0.827 0.080 1 7032722 intron variant T/G snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs544453380
rs544453380
KIFAP3
1 1.000 0.080 1 170046818 synonymous variant T/C snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs551585
rs551585 		4 0.851 0.080 1 76660688 intergenic variant C/A snv 8.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs797044594
rs797044594
TARDBP
2 0.925 0.080 1 11022559 missense variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs80356731
rs80356731
TARDBP
3 0.882 0.080 1 11022437 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs121909342
rs121909342
DCTN1
5 0.827 0.200 2 74378104 missense variant C/G;T snv 0.700 1.000 7 2003 2016
dbSNP: rs121909344
rs121909344
DCTN1
2 0.925 0.080 2 74366896 missense variant G/A;C snv 1.9E-04 0.700 1.000 5 2004 2012
dbSNP: rs72466496
rs72466496
DCTN1
2 1.000 0.080 2 74361590 missense variant G/A snv 2.9E-03 2.8E-03 0.700 1.000 5 2004 2012
dbSNP: rs121909343
rs121909343
DCTN1
2 1.000 0.080 2 74368870 missense variant A/G snv 4.0E-06 7.0E-06 0.700 1.000 2 2004 2005
dbSNP: rs121909345
rs121909345
DCTN1
4 0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05 0.700 1.000 2 2004 2005
dbSNP: rs1400816
rs1400816
SLC25A12
4 0.851 0.080 2 171824168 intron variant A/C snv 0.81 0.700 1.000 1 2014 2014
dbSNP: rs1464443
rs1464443
ERBB4
4 0.851 0.080 2 212050001 intron variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1559473
rs1559473 		4 0.851 0.080 2 222016799 intergenic variant T/G snv 0.25 0.700 1.000 1 2014 2014
dbSNP: rs4234080
rs4234080
METTL21A
4 0.851 0.080 2 207624377 5 prime UTR variant C/A snv 0.19 0.23 0.700 1.000 1 2014 2014
dbSNP: rs72911847
rs72911847 		4 0.851 0.080 2 193714051 intergenic variant A/G snv 3.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs7601234
rs7601234
HOXD10
4 0.851 0.080 2 176116615 5 prime UTR variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs115134572
rs115134572
SLC9A9
4 0.851 0.080 3 143629403 intron variant A/G snv 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs13100616
rs13100616
KCNMB2 ; KCNMB2-AS1
4 0.851 0.080 3 178681763 intron variant A/G snv 0.33 0.700 1.000 1 2014 2014
dbSNP: rs1605070
rs1605070 		4 0.851 0.080 3 51882999 intergenic variant C/A snv 0.60 0.700 1.000 1 2014 2014
dbSNP: rs2685056
rs2685056
LOC107986108
4 0.851 0.080 3 104699729 intergenic variant G/A snv 0.50 0.700 1.000 1 2014 2014
dbSNP: rs3852053
rs3852053
MASP1
4 0.851 0.080 3 187219412 3 prime UTR variant T/G snv 0.47 0.700 1.000 1 2014 2014
dbSNP: rs616147
rs616147
MOBP
5 0.827 0.080 3 39492990 intron variant A/G snv 0.76 0.700 1.000 1 2017 2017