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: rs121912454
rs121912454
SOD1 ; SCAF4
1 1.000 0.080 21 31668493 stop gained T/A;C snv 0.700 0
dbSNP: rs121912458
rs121912458
SOD1
1 1.000 0.080 21 31667260 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1235629842
rs1235629842
SOD1
1 1.000 0.080 21 31667373 missense variant G/C;T snv 4.0E-06 0.700 0
dbSNP: rs1301635320
rs1301635320
SOD1
1 1.000 0.080 21 31667364 missense variant C/G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs76731700
rs76731700
SOD1
1 1.000 0.080 21 31667319 stop gained G/A;T snv 0.700 0
dbSNP: rs986277034
rs986277034
SOD1
1 1.000 0.080 21 31663881 missense variant C/G snv 0.700 0
dbSNP: rs1346351465
rs1346351465
BMS1
1 1.000 0.080 10 42784401 missense variant G/A snv 0.010 1.000 1 1994 1994
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: rs1420149251
rs1420149251
IGFALS ; SPSB3
2 0.925 0.080 16 1792441 missense variant C/A;T snv 0.020 1.000 2 1994 1996
dbSNP: rs1476760624
rs1476760624
SOD1 ; SCAF4
1 1.000 0.080 21 31668559 missense variant T/G snv 4.0E-06 0.710 1.000 1 1997 1997
dbSNP: rs1410835752
rs1410835752
IGFALS ; SPSB3
2 0.925 0.080 16 1792440 missense variant G/A snv 0.020 1.000 2 1997 2000
dbSNP: rs1315541036
rs1315541036
SOD1
2 0.925 0.080 21 31667273 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.710 1.000 1 2001 2001
dbSNP: rs1339728077
rs1339728077
MT1M
1 1.000 0.080 16 56633404 splice region variant G/A snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs201579326
rs201579326
MT1F
1 1.000 0.080 16 56658739 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs4987023
rs4987023
SOD2
6 0.807 0.120 6 159692661 missense variant C/T snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs748423903
rs748423903
SOD2
2 0.925 0.080 6 159688144 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs749333623
rs749333623
MT1G
1 1.000 0.080 16 56667313 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
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
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: 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: 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: 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: 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: 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