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: rs1042026735
rs1042026735
IDH2
1 1.000 0.040 15 90088650 synonymous variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1042028
rs1042028
SULT1A1
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 1.000 1 2015 2015
dbSNP: rs10514611
rs10514611
IRF8
2 0.925 0.080 16 85921636 3 prime UTR variant C/T snv 0.23 0.010 1.000 1 2014 2014
dbSNP: rs1051740
rs1051740
EPHX1
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2018 2018
dbSNP: rs1052576
rs1052576
CASP9
9 0.807 0.200 1 15506048 missense variant T/A;C snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs1057519781
rs1057519781
ALK
9 0.807 0.160 2 29209816 missense variant C/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 1991 1991
dbSNP: rs1057520001
rs1057520001
TP53
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
5 0.851 0.080 9 5089726 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1078327
rs1078327
NOD2
1 1.000 0.040 16 50711322 missense variant C/T snv 1.5E-03 5.6E-04 0.010 1.000 1 2011 2011
dbSNP: rs10873876
rs10873876
ST6GALNAC3
1 1.000 0.040 1 76306643 intron variant T/C snv 0.75 0.010 1.000 1 2016 2016
dbSNP: rs10994982
rs10994982
ARID5B
7 0.790 0.120 10 61950345 intron variant A/G snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs111033563
rs111033563
HFE ; LOC108783645
8 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs111394117
rs111394117
NOTCH4
1 1.000 0.040 6 32219436 intron variant G/A snv 7.7E-03 0.010 1.000 1 2019 2019
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2013 2013
dbSNP: rs11545078
rs11545078
GGH
6 0.807 0.200 8 63026205 missense variant G/A snv 8.8E-02 7.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs1168030806
rs1168030806
ERG
1 1.000 0.040 21 38392384 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1178981336
rs1178981336
C9orf43
2 1.000 0.040 9 113424228 frameshift variant -/G delins 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs11978267
rs11978267
IKZF1
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1203633
rs1203633
PRDM2
1 1.000 0.040 1 13760080 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1205046029
rs1205046029
INPP5D
1 1.000 0.040 2 233164391 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs12147254
rs12147254
TRAF3
4 0.851 0.240 14 102799329 intron variant G/A snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs121913240
rs121913240
KRAS
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.010 1.000 1 2006 2006