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: 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: rs3822214
rs3822214
KIT
13 0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 0.010 1.000 1 2002 2002
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: rs34549764
rs34549764
ABL1
1 1.000 0.080 9 130862953 missense variant A/G snv 2.6E-03 2.5E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs754736070
rs754736070
MTTP
1 1.000 0.080 4 99597206 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2006 2006
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: rs141157255
rs141157255
APAF1
3 0.882 0.120 12 98659331 missense variant G/A snv 4.0E-05 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 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: 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: 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: rs1801018
rs1801018
BCL2
6 0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32 0.010 1.000 1 2009 2009
dbSNP: rs6503691
rs6503691
STAT5B
5 0.827 0.200 17 42242072 intron variant C/T snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs1057519773
rs1057519773
ABL1
4 0.851 0.160 9 130872901 missense variant T/A;C;G snv 0.710 1.000 2 2008 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: rs1407906280
rs1407906280
MDM2
3 0.882 0.120 12 68839467 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1414109649
rs1414109649
PRKAA1
1 1.000 0.080 5 40765164 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
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: rs886063722
rs886063722
AGPAT2
1 1.000 0.080 9 136677118 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121908587
rs121908587
PDGFRA
6 0.827 0.120 4 54278380 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs281860566
rs281860566
HLA-B ; HLA-C
1 1.000 0.080 6 31270339 missense variant C/T snv 0.010 1.000 1 2012 2012