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: rs1002442
rs1002442
ANK3
4 0.851 0.080 10 60043304 non coding transcript exon variant T/G snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs10029851
rs10029851 		4 0.851 0.080 4 108706869 intergenic variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs10145110
rs10145110
MEG8
4 0.851 0.080 14 101008533 intron variant C/T snv 9.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs11061269
rs11061269
ADGRD1
4 0.851 0.080 12 130971904 intron variant G/A snv 7.5E-02 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: rs11556620
rs11556620
SOD1
1 1.000 0.080 21 31667278 missense variant A/G;T snv 0.800 1.000 3 2005 2012
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: rs1169198442
rs1169198442
SOD1 ; LOC102724449
1 1.000 0.080 21 31659837 missense variant A/G;T snv 0.700 1.000 20 1993 2009
dbSNP: rs11744876
rs11744876
CTNND2
4 0.851 0.080 5 11084600 intron variant G/A snv 7.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs11987758
rs11987758
LOC105377781
4 0.851 0.080 8 2180583 regulatory region variant G/A snv 0.12 0.700 1.000 1 2014 2014
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: 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: 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: 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: rs121909668
rs121909668
FUS
8 0.790 0.120 16 31191418 missense variant C/A;G;T snv 1.2E-05 0.030 1.000 3 2010 2014
dbSNP: rs121912431
rs121912431
SOD1
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.890 0.969 32 1993 2012
dbSNP: rs121912432
rs121912432
SOD1
3 0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06 0.810 1.000 24 1993 2012
dbSNP: rs121912433
rs121912433
SOD1
7 0.827 0.120 21 31663841 missense variant G/A snv 4.0E-06 0.800 1.000 23 1993 2012
dbSNP: rs121912434
rs121912434
SOD1
2 0.925 0.080 21 31663842 missense variant G/A snv 0.800 1.000 32 1993 2017
dbSNP: rs121912435
rs121912435
SOD1
2 0.925 0.080 21 31663848 missense variant A/G snv 4.0E-06 0.810 1.000 27 1993 2012
dbSNP: rs121912436
rs121912436
SOD1
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.870 1.000 30 1993 2013
dbSNP: rs121912437
rs121912437
SOD1
5 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.820 1.000 25 1993 2017
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.900 1.000 39 1993 2016
dbSNP: rs121912439
rs121912439
SOD1
4 0.851 0.080 21 31667320 missense variant A/G snv 0.810 1.000 24 1993 2012
dbSNP: rs121912440
rs121912440
SOD1
3 0.882 0.080 21 31667337 missense variant C/G;T snv 0.800 1.000 28 1993 2012