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: rs1178702025
rs1178702025
SETBP1
1 1.000 0.080 18 44951912 missense variant G/A snv 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs4795519
rs4795519 		1 1.000 0.080 17 27214252 intergenic variant A/C snv 0.43 0.800 1.000 1 2011 2011
dbSNP: rs1057519772
rs1057519772
ABL1
1 1.000 0.080 9 130872895 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519774
rs1057519774
ABL1
1 1.000 0.080 9 130872902 missense variant T/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519775
rs1057519775
ABL1
1 1.000 0.080 9 130873028 missense variant T/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519776
rs1057519776
CSF3R
1 1.000 0.080 1 36467843 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs267607038
rs267607038
SETBP1
4 0.882 0.320 18 44951952 missense variant T/C;G snv 8.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs267607042
rs267607042
SETBP1
5 0.851 0.320 18 44951942 missense variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs796065343
rs796065343
CSF3R
12 0.776 0.080 1 36467833 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1057519991
rs1057519991
TP53
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1060500091
rs1060500091
GATA2
4 0.882 0.120 3 128481887 missense variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1064156
rs1064156
ABL1
1 1.000 0.080 9 130878519 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs111340708
rs111340708
ATXN2 ; SH2B3
2 0.925 0.080 12 111447548 intron variant TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG delins 0.52 0.010 1.000 1 2016 2016
dbSNP: rs1190999960
rs1190999960
ZNRD2 ; FAM89B ; ZNRD2-AS1
9 0.807 0.240 11 65571690 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1208076129
rs1208076129
POU5F1 ; TCF19
2 0.925 0.120 6 31164861 stop gained G/A snv 4.1E-06 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs121908587
rs121908587
PDGFRA
6 0.827 0.120 4 54278380 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913505
rs121913505
KIT
2 0.925 0.080 4 54695598 missense variant G/A snv 2.0E-05 0.010 1.000 1 1997 1997
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs121913516
rs121913516
KIT
6 1.000 0.080 4 54729353 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs12343867
rs12343867
JAK2 ; INSL6
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs1239681664
rs1239681664
ABCA1
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2014 2014