Source: CURATED ×
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: rs121912434
rs121912434
SOD1
1 0.925 0.080 21 31663842 missense variant G/A snv 0.800 1.000 32 1993 2017
dbSNP: rs121912443
rs121912443
SOD1
1 0.732 0.160 21 31663857 missense variant A/G snv 0.890 1.000 31 1993 2014
dbSNP: rs121912440
rs121912440
SOD1
1 0.882 0.080 21 31667337 missense variant C/G;T snv 0.800 1.000 28 1993 2012
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
1 1.000 0.080 21 31668547 missense variant T/C snv 0.800 1.000 28 1993 2017
dbSNP: rs121912431
rs121912431
SOD1
2 0.742 0.160 21 31663829 missense variant G/A;C snv 0.890 0.969 23 1993 2012
dbSNP: rs121912436
rs121912436
SOD1
1 0.827 0.080 21 31667274 missense variant G/A;C snv 0.870 1.000 23 1993 2013
dbSNP: rs121912437
rs121912437
SOD1
2 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.820 1.000 23 1993 2017
dbSNP: rs121912439
rs121912439
SOD1
2 0.851 0.080 21 31667320 missense variant A/G snv 0.810 1.000 23 1993 2012
dbSNP: rs121912447
rs121912447
SOD1 ; SCAF4
1 1.000 0.080 21 31668549 missense variant G/A snv 0.800 1.000 23 1993 2012
dbSNP: rs121912448
rs121912448
SOD1 ; LOC102724449
1 0.925 0.080 21 31659789 missense variant G/A;T snv 0.810 1.000 23 1993 2012
dbSNP: rs121912449
rs121912449
SOD1 ; SCAF4
1 1.000 0.080 21 31668568 missense variant T/C snv 0.800 1.000 23 1993 2012
dbSNP: rs121912450
rs121912450
SOD1 ; LOC102724449
1 1.000 0.080 21 31659833 missense variant G/A snv 0.800 1.000 23 1993 2012
dbSNP: rs121912453
rs121912453
SOD1 ; LOC102724449
1 1.000 0.080 21 31659818 missense variant G/A;T snv 0.800 1.000 23 1993 2012
dbSNP: rs121912456
rs121912456
SOD1 ; LOC102724449
1 0.851 0.120 21 31659806 missense variant G/C snv 0.800 1.000 23 1993 2012
dbSNP: rs121912457
rs121912457
SOD1
1 1.000 0.080 21 31663854 missense variant T/C;G snv 0.800 1.000 23 1993 2012
dbSNP: rs74315452
rs74315452
SOD1
1 0.732 0.160 21 31667356 missense variant T/C snv 0.810 1.000 23 1993 2012
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: rs121912445
rs121912445
SOD1
2 0.882 0.080 21 31667331 missense variant A/T snv 0.720 1.000 20 1993 2017
dbSNP: rs1339283341
rs1339283341
SOD1
1 1.000 0.080 21 31667281 missense variant T/C snv 0.700 1.000 20 1993 2009
dbSNP: rs121909342
rs121909342
DCTN1
3 0.827 0.200 2 74378104 missense variant C/G;T snv 0.700 1.000 7 2003 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: rs1555836950
rs1555836950
SOD1 ; SCAF4
1 1.000 0.080 21 31668556 missense variant G/A snv 0.700 1.000 3 2010 2014
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