Source: CURATED ×
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: rs77375493
rs77375493
JAK2 ; INSL6
13 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.900 0.966 12 2005 2019
dbSNP: rs121912472
rs121912472
JAK2 ; INSL6
1 0.925 0.080 9 5073742 missense variant G/C snv 0.810 1.000 3 2006 2019
dbSNP: rs121913487
rs121913487
FLT3
2 0.925 0.120 13 28018503 missense variant A/C;T snv 0.800 1.000 15 2001 2014
dbSNP: rs147001633
rs147001633
DNMT3A
8 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.800 1.000 10 2010 2019
dbSNP: rs28931590
rs28931590
CEBPA ; CEBPA-DT
1 1.000 0.040 19 33302164 missense variant T/A snv 0.800 1.000 5 2001 2013
dbSNP: rs121913502
rs121913502
IDH2
6 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.780 1.000 10 2010 2019
dbSNP: rs121913500
rs121913500
IDH1
19 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.760 0.923 7 2009 2019
dbSNP: rs121913514
rs121913514
KIT
4 0.763 0.240 4 54733174 missense variant T/A;G snv 0.750 1.000 1 2006 2013
dbSNP: rs121913488
rs121913488
FLT3
3 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.740 1.000 19 2001 2019
dbSNP: rs121913237
rs121913237
NRAS
12 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 9 1987 2017
dbSNP: rs121913499
rs121913499
IDH1
18 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.740 1.000 7 2009 2016
dbSNP: rs121913503
rs121913503
IDH2
6 0.689 0.200 15 90088606 missense variant C/A;T snv 0.720 1.000 12 2010 2016
dbSNP: rs1057519766
rs1057519766
FLT3
1 0.851 0.080 13 28028203 missense variant G/C;T snv 0.720 1.000 2 2013 2016
dbSNP: rs387906631
rs387906631
GATA2
5 0.882 0.080 3 128481901 missense variant G/A snv 0.720 1.000 2 2011 2012
dbSNP: rs121913232
rs121913232
FLT3
2 0.925 0.120 13 28018500 missense variant G/C snv 0.710 1.000 8 2003 2014
dbSNP: rs377577594
rs377577594
DNMT3A
5 0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06 0.710 1.000 8 2010 2016
dbSNP: rs11554290
rs11554290
NRAS
25 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.710 1.000 6 1987 2016
dbSNP: rs121913529
rs121913529
KRAS
21 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 5 1987 2014
dbSNP: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 4 2014 2019
dbSNP: rs267606870
rs267606870
IDH2
6 0.763 0.280 15 90088703 missense variant G/A;C snv 0.710 1.000 4 2010 2016
dbSNP: rs121912651
rs121912651
TP53
37 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.710 1.000 3 2010 2016
dbSNP: rs376588714
rs376588714
FLT3
1 1.000 0.040 13 28018483 missense variant T/C snv 2.4E-05 1.4E-05 0.710 1.000 3 2005 2014
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
37 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.710 1.000 1 2014 2016
dbSNP: rs1057519764
rs1057519764
FLT3
1 1.000 0.040 13 28027222 missense variant A/C;T snv 0.710 1.000 1 2012 2019
dbSNP: rs1057520026
rs1057520026
FLT3
1 0.925 0.040 13 28028244 missense variant T/G snv 0.710 1.000 1 2006 2006