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: 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: rs3116496
rs3116496
CD28
11 0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14 0.010 1.000 1 2019 2019
dbSNP: rs35947132
rs35947132
PRF1
10 0.776 0.280 10 70600631 missense variant G/A snv 2.9E-02 2.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs778036161
rs778036161
RUNX1T1
9 0.776 0.080 8 92017363 missense variant T/C snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs796065343
rs796065343
CSF3R
12 0.776 0.080 1 36467833 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs927698341
rs927698341
RUNX1T1
10 0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 0.010 < 0.001 1 2011 2011
dbSNP: rs121913521
rs121913521
KIT
12 0.790 0.120 4 54727447 missense variant T/A;C;G snv 0.020 1.000 2 2015 2019
dbSNP: rs10740055
rs10740055
ARID5B
7 0.790 0.240 10 61958720 intron variant C/A snv 0.49 0.010 1.000 1 2019 2019
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: rs762613037
rs762613037
SLC19A1 ; COL18A1
7 0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs748843032
rs748843032
MTTP
8 0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06 0.030 1.000 3 2009 2017
dbSNP: rs11545078
rs11545078
GGH
6 0.807 0.200 8 63026205 missense variant G/A snv 8.8E-02 7.8E-02 0.010 1.000 1 2004 2004
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: rs869312828
rs869312828
DDX41 ; DOK3
7 0.807 0.080 5 177512369 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1360131632
rs1360131632
STAT5A
6 0.827 0.080 17 42301316 missense variant C/T snv 4.0E-06 0.030 1.000 3 2004 2018
dbSNP: rs121913448
rs121913448
ABL1
5 0.827 0.120 9 130862976 missense variant G/A snv 0.010 1.000 1 2004 2004
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: rs2413739
rs2413739
PACSIN2
6 0.827 0.120 22 43001030 intron variant C/T snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs387906517
rs387906517
ABL1
6 0.827 0.120 9 130862919 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs387906553
rs387906553
ELANE
6 0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2002 2002
dbSNP: rs387906666
rs387906666
CBL
5 0.827 0.080 11 119278182 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs771138120
rs771138120
CDKN2A
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.010 1.000 1 2003 2003
dbSNP: rs74315450
rs74315450
RUNX1
5 0.851 0.120 21 34859485 missense variant C/T snv 0.020 1.000 2 2012 2015
dbSNP: rs10251201
rs10251201
UMAD1
4 0.851 0.160 7 7932654 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519766
rs1057519766
FLT3
5 0.851 0.080 13 28028203 missense variant G/C;T snv 0.010 1.000 1 2013 2013