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: rs115658307
rs115658307
APC
1 1.000 0.040 5 112707537 5 prime UTR variant C/T snv 4.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs1188975135
rs1188975135
APOBEC3C ; APOBEC3F
4 0.882 0.040 22 39017772 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121909629
rs121909629
FGFR1
3 0.882 0.200 8 38415905 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121913448
rs121913448
ABL1
5 0.827 0.120 9 130862976 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs121913452
rs121913452
ABL1
4 0.851 0.080 9 130873027 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs121913461
rs121913461
ABL1
5 0.851 0.120 9 130862970 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs121913488
rs121913488
FLT3
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1258094111
rs1258094111
CTSG
2 0.925 0.040 14 24575388 missense variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2015 2015
dbSNP: rs1360698171
rs1360698171
RNASEL
4 0.851 0.080 1 182584103 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs138213197
rs138213197
HOXB13
24 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs138386816
rs138386816
APC
1 1.000 0.040 5 112707566 5 prime UTR variant C/T snv 7.2E-03 0.010 1.000 1 2016 2016
dbSNP: rs138817062
rs138817062
PML
4 0.882 0.040 15 74044940 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs139834892
rs139834892
XRCC1
3 0.882 0.040 19 43553481 missense variant C/T snv 6.4E-05 1.1E-04 0.010 1.000 1 2018 2018
dbSNP: rs1408538785
rs1408538785
DNAH8
6 0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1416364034
rs1416364034
STAT5A
1 1.000 0.040 17 42300731 missense variant G/A snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1444068378
rs1444068378
FHL2
1 1.000 0.040 2 105363404 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs147001633
rs147001633
DNMT3A
15 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs1470755915
rs1470755915
RUNX1T1
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs1482518887
rs1482518887
RUNX1
8 0.790 0.040 21 34887018 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs174538
rs174538
TMEM258 ; FEN1 ; MIR611
21 0.701 0.440 11 61792609 5 prime UTR variant G/A snv 0.34 0.26 0.010 < 0.001 1 2016 2016