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: rs1225408165
rs1225408165
CASP4
1 1.000 0.080 11 104954748 splice region variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1226494987
rs1226494987
MATR3
3 0.882 0.080 5 139317091 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1226535830
rs1226535830
IGFALS ; SPSB3
2 0.925 0.080 16 1792123 missense variant T/C snv 4.2E-06 0.010 1.000 1 2011 2011
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: 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: rs371030047
rs371030047
FUS
3 0.882 0.080 16 31183971 missense variant C/G snv 0.010 1.000 1 2017 2017
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
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: 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: rs6539137
rs6539137
TXNRD1
1 1.000 0.080 12 104313402 intron variant A/T snv 0.93 0.010 1.000 1 2009 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: 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: rs751228176
rs751228176
CD68
2 0.925 0.080 17 7579971 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs751256719
rs751256719
TAF15
1 1.000 0.080 17 35844338 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
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: 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: 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: 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