Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913459
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.070 0.857 7 2006 2019
dbSNP: rs748843032
rs748843032
MTTP
0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.030 0.667 3 2006 2014
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 1.000 1 2014 2014
dbSNP: rs1057519773
rs1057519773
ABL1
0.851 0.160 9 130872901 missense variant T/A;C;G snv
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 1.000 1 2008 2008
dbSNP: rs1057519991
rs1057519991
TP53
0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 1.000 1 2007 2007
dbSNP: rs1060500091
rs1060500091
GATA2
0.882 0.120 3 128481887 missense variant A/C snv
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 1.000 1 2008 2008
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 1.000 1 2014 2014
dbSNP: rs121908587
rs121908587
PDGFRA
0.827 0.120 4 54278380 missense variant C/T snv
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 1.000 1 2009 2009
dbSNP: rs121913451
rs121913451
ABL1
0.851 0.160 9 130872903 missense variant C/A;G snv
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 1.000 1 2008 2008
dbSNP: rs1353702185
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 1.000 1 2014 2014
dbSNP: rs1407906280
rs1407906280
MDM2
0.882 0.120 12 68839467 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 1.000 1 2017 2017
dbSNP: rs141157255
rs141157255
APAF1
0.882 0.120 12 98659331 missense variant G/A snv 4.0E-05 2.8E-05
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 1.000 1 2007 2007
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 < 0.001 1 2006 2006
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.010 1.000 1 2014 2014