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: rs369947678
rs369947678
UBQLN2
2 0.925 0.080 X 56565446 missense variant C/A;G;T snv 2.0E-05; 2.7E-05; 3.3E-04 0.700 0
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.100 0.917 12 1994 2017
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: rs80265967
rs80265967
SOD1
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.100 1.000 30 1995 2020
dbSNP: rs1159805691
rs1159805691
IGFALS ; SPSB3
4 0.851 0.080 16 1792266 frameshift variant T/- del 7.0E-06 0.030 1.000 3 1995 2009
dbSNP: rs121912439
rs121912439
SOD1
4 0.851 0.080 21 31667320 missense variant A/G snv 0.010 1.000 1 1995 1995
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.100 0.995 416 1996 2020
dbSNP: rs121912448
rs121912448
SOD1 ; LOC102724449
2 0.925 0.080 21 31659789 missense variant G/A;T snv 0.010 1.000 1 1996 1996
dbSNP: rs121912431
rs121912431
SOD1
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.100 1.000 17 1997 2017
dbSNP: rs74315452
rs74315452
SOD1
12 0.732 0.160 21 31667356 missense variant T/C snv 0.070 1.000 7 1997 2015
dbSNP: rs796998590
rs796998590
SLC1A2
2 0.925 0.080 11 35317428 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 1997 2011
dbSNP: rs121912455
rs121912455
SOD1
3 0.882 0.080 21 31666496 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs377633002
rs377633002
SLC1A2
1 1.000 0.080 11 35315097 missense variant G/C snv 2.2E-04 3.7E-04 0.010 1.000 1 1998 1998
dbSNP: rs946135215
rs946135215
NEFH ; LOC107985541
1 1.000 0.080 22 29480368 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
7 0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05 0.040 1.000 4 1999 2018
dbSNP: rs121912436
rs121912436
SOD1
7 0.827 0.080 21 31667274 missense variant G/A;C snv 0.100 1.000 13 2000 2019
dbSNP: rs1438565133
rs1438565133
SLC1A3
5 0.827 0.120 5 36674078 missense variant C/G snv 4.0E-06 0.030 1.000 3 2000 2003
dbSNP: rs1426039367
rs1426039367
CSF2
2 0.925 0.080 5 132073916 synonymous variant G/A snv 7.0E-06 0.040 1.000 4 2001 2016
dbSNP: rs121912459
rs121912459
SOD1
2 0.925 0.080 21 31667307 missense variant G/A snv 2.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs777153938
rs777153938
SOD2
1 1.000 0.080 6 159692615 missense variant T/G snv 0.010 1.000 1 2001 2001
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.100 1.000 13 2002 2018
dbSNP: rs1445888481
rs1445888481
IL1B
2 0.925 0.080 2 112835572 synonymous variant C/T snv 7.0E-06 0.100 1.000 10 2002 2018
dbSNP: rs121912437
rs121912437
SOD1
5 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.030 1.000 3 2002 2017
dbSNP: rs760097344
rs760097344
GDNF ; GDNF-AS1
1 1.000 0.080 5 37815763 missense variant C/G;T snv 4.0E-06 1.4E-05 0.030 1.000 3 2002 2017
dbSNP: rs115796194
rs115796194
IL1R1
1 1.000 0.080 2 102171877 synonymous variant A/G snv 1.1E-03 5.4E-03 0.010 1.000 1 2002 2002