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: rs1057519768
rs1057519768
FLT3
1 1.000 0.040 13 28028279 missense variant T/C snv 0.700 1.000 3 2012 2014
dbSNP: rs1057519769
rs1057519769
FLT3
1 1.000 0.040 13 28033974 missense variant C/A snv 0.700 1.000 3 2012 2014
dbSNP: rs387906631
rs387906631
GATA2
6 0.882 0.080 3 128481901 missense variant G/A snv 0.720 1.000 3 2011 2012
dbSNP: rs587782329
rs587782329
TP53
23 0.677 0.280 17 7674217 missense variant C/A;G;T snv 0.700 1.000 3 2014 2014
dbSNP: rs1042919
rs1042919
RRM1
1 1.000 0.040 11 4138534 3 prime UTR variant A/T snv 0.88 0.020 1.000 2 2013 2017
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.710 1.000 2 2014 2016
dbSNP: rs1057519709
rs1057519709
KIT
2 0.925 0.080 4 54733154 missense variant GA/AT mnv 0.700 1.000 2 2009 2013
dbSNP: rs1057519750
rs1057519750
RUNX1 ; LOC112267915
1 1.000 0.040 21 34880580 missense variant C/T snv 0.700 1.000 2 2009 2014
dbSNP: rs1057519753
rs1057519753
JAK1
9 0.763 0.120 1 64846664 missense variant C/A snv 0.700 1.000 2 2011 2011
dbSNP: rs1057519764
rs1057519764
FLT3
1 1.000 0.040 13 28027222 missense variant A/C;T snv 0.710 1.000 2 2012 2019
dbSNP: rs10821936
rs10821936
ARID5B
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.020 1.000 2 2014 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 < 0.001 2 2012 2016
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 2 2009 2016
dbSNP: rs121913504
rs121913504
JAK3
3 0.882 0.080 19 17837200 missense variant G/A snv 0.020 1.000 2 2011 2015
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 1.000 2 2009 2013
dbSNP: rs1408538785
rs1408538785
DNAH8
6 0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2015 2018
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2015 2019
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2015 2019
dbSNP: rs2293157
rs2293157
STAT5A
9 0.763 0.120 17 42300657 intron variant C/A;T snv 0.020 1.000 2 2012 2016
dbSNP: rs267607040
rs267607040
SETBP1
5 0.851 0.320 18 44951948 missense variant G/A snv 0.700 1.000 2 2013 2013
dbSNP: rs387906629
rs387906629
GATA2
3 0.925 0.080 3 128481270 missense variant G/A snv 0.700 1.000 2 2011 2012
dbSNP: rs7309123
rs7309123
CLEC7A ; LOC105369655
8 0.807 0.280 12 10119994 intron variant G/C snv 0.42 0.020 1.000 2 2016 2019
dbSNP: rs869312828
rs869312828
DDX41 ; DOK3
7 0.807 0.080 5 177512369 missense variant C/T snv 0.020 1.000 2 2016 2017
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 < 0.001 2 2012 2016