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: rs121909646
rs121909646
FLT3
3 0.882 0.120 13 28018504 missense variant T/A;G snv 0.700 0
dbSNP: rs121913488
rs121913488
FLT3
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.700 0
dbSNP: rs587776834
rs587776834
FLT3
1 1.000 0.120 13 28034140 inframe deletion TCA/- delins 0.700 0
dbSNP: rs587782545
rs587782545
NBN
4 0.882 0.160 8 89947835 stop gained T/A snv 3.9E-05 2.1E-05 0.700 0
dbSNP: rs63750250
rs63750250
PMS2
9 0.807 0.280 7 5986933 frameshift variant -/T delins 1.6E-05 4.2E-05 0.700 0
dbSNP: rs730881864
rs730881864
NBN
4 0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05 0.700 0
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs767215758
rs767215758
NBN
4 0.882 0.160 8 89958819 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs767454740
rs767454740
NBN
4 0.882 0.320 8 89982736 frameshift variant AA/- delins 7.0E-06 0.700 0
dbSNP: rs786205154
rs786205154
ETV6
3 1.000 0.120 12 11885921 coding sequence variant GAACA/- delins 0.700 0
dbSNP: rs869312821
rs869312821
GNB1
7 0.882 0.120 1 1806515 missense variant T/C snv 0.700 0
dbSNP: rs786205155
rs786205155
ETV6
4 0.882 0.120 12 11884481 missense variant T/C snv 0.710 1.000 1 2015 2015
dbSNP: rs10106
rs10106
FPGS
4 0.851 0.200 9 127813796 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs10235796
rs10235796
IKZF1
3 0.882 0.120 7 50394939 intron variant T/C snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs10272724
rs10272724 		4 0.882 0.200 7 50409515 downstream gene variant T/C snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs104893636
rs104893636
HOXD3 ; HOXD4
3 0.882 0.120 2 176151875 missense variant A/C;T snv 5.2E-06; 7.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs1051296
rs1051296
SLC19A1
3 0.882 0.120 21 45514947 3 prime UTR variant A/C snv 0.43 0.44 0.010 1.000 1 2014 2014
dbSNP: rs10519612
rs10519612
IL15
3 0.882 0.120 4 141732548 intron variant A/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2016 2016
dbSNP: rs1057519743
rs1057519743
CRLF2
6 0.827 0.120 Y 1196852 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1057519753
rs1057519753
JAK1
9 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1057519773
rs1057519773
ABL1
4 0.851 0.160 9 130872901 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2016 2016
dbSNP: rs10740055
rs10740055
ARID5B
7 0.790 0.240 10 61958720 intron variant C/A snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs10828317
rs10828317
PIP4K2A
9 0.776 0.280 10 22550699 missense variant T/C snv 0.010 1.000 1 2013 2013