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: rs387906631
rs387906631
GATA2
6 0.882 0.080 3 128481901 missense variant G/A snv 0.820 1.000 2 2011 2012
dbSNP: rs1265794840
rs1265794840
ERCC2
6 0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1408538785
rs1408538785
DNAH8
6 0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1464681682
rs1464681682
U2AF1L5 ; LOC102724701 ; LOC102724843
6 0.882 0.160 21 6486334 missense variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2454206
rs2454206
TET2 ; TET2-AS1
6 0.851 0.160 4 105275794 missense variant A/G;T snv 0.30; 6.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs387906717
rs387906717
WAS
6 0.827 0.120 X 48688403 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs397507548
rs397507548
PTPN11
6 0.851 0.160 12 112489093 missense variant A/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1057519960
rs1057519960
SF3B2
7 0.827 0.280 11 66063413 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913488
rs121913488
FLT3
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs377577594
rs377577594
DNMT3A
7 0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs869312828
rs869312828
DDX41 ; DOK3
7 0.807 0.080 5 177512369 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs371246226
rs371246226
U2AF1
8 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.710 1.000 2 2011 2015
dbSNP: rs2230641
rs2230641
CCNH
8 0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17 0.010 1.000 1 2019 2019
dbSNP: rs1470755915
rs1470755915
RUNX1T1
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2308327
rs2308327
MGMT
10 0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs927698341
rs927698341
RUNX1T1
10 0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs1805388
rs1805388
LIG4
11 0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16 0.010 1.000 1 2016 2016
dbSNP: rs267606870
rs267606870
IDH2
11 0.763 0.280 15 90088703 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs8179090
rs8179090
TIMP2
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs2228526
rs2228526
ERCC6
13 0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19 0.010 1.000 1 2019 2019
dbSNP: rs559063155
rs559063155
SF3B1
14 0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 0.030 1.000 3 2016 2017
dbSNP: rs745564626
rs745564626
KLC1 ; XRCC3
14 0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05 0.010 1.000 1 2016 2016
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 0.700 1.000 1 2016 2016
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1801320
rs1801320
RAD51 ; RAD51-AS1
15 0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 0.010 1.000 1 2015 2015