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: 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: 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: rs80265967
rs80265967
SOD1
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.800 1.000 20 1993 2009
dbSNP: rs202180032
rs202180032
TAF15
1 1.000 0.080 17 35844353 missense variant C/G;T snv 8.0E-06; 2.7E-04 0.010 1.000 1 2011 2011
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: rs1804449
rs1804449
SOD1 ; SCAF4
1 1.000 0.080 21 31668533 missense variant C/A;T snv 1.2E-04 0.700 1.000 20 1993 2009
dbSNP: rs71381481
rs71381481
TAF15
1 1.000 0.080 17 35844483 missense variant G/A snv 5.6E-05 1.1E-04 0.010 1.000 1 2011 2011
dbSNP: rs121912441
rs121912441
SOD1
2 0.925 0.080 21 31667359 missense variant T/C snv 4.8E-05 7.0E-06 0.800 1.000 32 1976 2017
dbSNP: rs763098034
rs763098034
HSPB1
2 0.925 0.080 7 76302821 missense variant C/G;T snv 3.9E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.830 1.000 36 1993 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: rs776058639
rs776058639
OPTN
3 0.925 0.080 10 13112564 missense variant G/A snv 2.4E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs771188948
rs771188948
TAF15
1 1.000 0.080 17 35820067 missense variant G/A snv 1.6E-05 6.3E-05 0.010 1.000 1 2011 2011
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
2 0.925 0.120 21 31668548 missense variant G/C;T snv 1.6E-05 0.820 1.000 38 1993 2017
dbSNP: rs892235577
rs892235577
GPX1
2 0.925 0.080 3 49358271 missense variant G/A snv 1.5E-05 3.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs567511139
rs567511139
SOD1 ; SCAF4
2 0.925 0.080 21 31668558 missense variant G/A snv 1.2E-05 7.0E-06 0.700 1.000 20 1993 2009
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: rs200670756
rs200670756
EWSR1
1 1.000 0.080 22 29297869 missense variant G/A snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1280042397
rs1280042397
SOD1
1 1.000 0.080 21 31667287 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 20 1993 2009
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: rs759097092
rs759097092
IGFALS ; SPSB3
2 0.925 0.080 16 1792237 missense variant T/C snv 8.5E-06 0.010 1.000 1 2011 2011
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: rs757200716
rs757200716
ESR1
5 0.851 0.160 6 151842617 missense variant G/A snv 8.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs1424014997
rs1424014997
SOD1 ; SCAF4
3 0.882 0.080 21 31668562 missense variant T/C snv 8.0E-06 0.710 1.000 21 1993 2009
dbSNP: rs763330682
rs763330682
TMPRSS6
1 1.000 0.080 22 37103352 synonymous variant C/T snv 8.0E-06 2.1E-05 0.010 1.000 1 2001 2001