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: rs121912446
rs121912446
SOD1 ; SCAF4
1 1.000 0.080 21 31668547 missense variant T/C snv 0.800 1.000 28 1993 2017
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: 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: rs121912457
rs121912457
SOD1
1 1.000 0.080 21 31663854 missense variant T/C;G snv 0.800 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: 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: rs1339283341
rs1339283341
SOD1
1 1.000 0.080 21 31667281 missense variant T/C snv 0.700 1.000 20 1993 2009
dbSNP: rs1378590183
rs1378590183
SOD1
1 1.000 0.080 21 31667335 missense variant C/T snv 4.0E-06 0.700 1.000 20 1993 2009
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: 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: rs1225408165
rs1225408165
CASP4
1 1.000 0.080 11 104954748 splice region variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1229237874
rs1229237874
KIF2A ; DIMT1
1 1.000 0.080 5 62352594 missense variant G/C snv 7.0E-06 0.010 1.000 1 2009 2009
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: rs1345502723
rs1345502723
EWSR1
1 1.000 0.080 22 29272423 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1346351465
rs1346351465
BMS1
1 1.000 0.080 10 42784401 missense variant G/A snv 0.010 1.000 1 1994 1994
dbSNP: rs1364251933
rs1364251933
RREB1
1 1.000 0.080 6 7230458 missense variant C/T snv 4.6E-06 0.010 1.000 1 2014 2014
dbSNP: rs1465567777
rs1465567777
UBQLN4
1 1.000 0.080 1 156051319 missense variant T/G snv 0.700 1.000 1 2017 2017
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: 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: 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: 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: rs4630362
rs4630362
TXNRD1
1 1.000 0.080 12 104333966 intron variant G/C snv 0.93 0.010 1.000 1 2009 2009