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: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
0.574 0.680 11 111511840 intron variant T/C snv 0.32
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2018 2018
dbSNP: rs765669662
rs765669662
CA2 ; CA3-AS1
0.925 0.040 8 85465317 missense variant G/A;T snv 2.0E-05; 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2001 2001
dbSNP: rs2308950
rs2308950
CASP9
0.882 0.040 1 15507011 missense variant C/G;T snv 4.0E-06; 1.1E-02
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2018 2018
dbSNP: rs387906666
rs387906666
CBL
0.827 0.080 11 119278182 missense variant A/C;G snv
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs3116496
rs3116496
CD28
0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2019 2019
dbSNP: rs11547328
rs11547328
CDK4
0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2003 2003
dbSNP: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2003 2003
dbSNP: rs564398
rs564398
CDKN2B-AS1
0.716 0.360 9 22029548 3 prime UTR variant T/C snv 0.31 0.28
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2011 2011
dbSNP: rs754944509
rs754944509
CNTNAP1
0.851 0.080 17 42690793 missense variant C/T snv 4.4E-05
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2018 2018
dbSNP: rs796065343
rs796065343
CSF3R
0.776 0.080 1 36467833 missense variant G/A snv
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2018 2018
dbSNP: rs1258094111
rs1258094111
CTSG
0.925 0.040 14 24575388 missense variant C/T snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2001 2001
dbSNP: rs1801157
rs1801157
CXCL12
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs3745274
rs3745274
CYP2B6
0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27
CUI: C0023418
Disease: leukemia
leukemia 		0.010 < 0.001 1 2011 2011
dbSNP: rs869312828
rs869312828
DDX41 ; DOK3
0.807 0.080 5 177512369 missense variant C/T snv
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs1408538785
rs1408538785
DNAH8
0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs147001633
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs387906553
rs387906553
ELANE
0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2002 2002
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs1801132
rs1801132
ESR1
0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs2077647
rs2077647
ESR1
0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs3798577
rs3798577
ESR1
0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2010 2010