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: rs947141826
rs947141826
0.925 0.040 10 133394281 missense variant C/T snv 2.1E-05
CUI: C0023418
Disease: leukemia
leukemia
0.010 1.000 1 1993 1993
dbSNP: rs1217691063
rs1217691063
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0023418
Disease: leukemia
leukemia
0.070 1.000 7 2001 2016
dbSNP: rs397507444
rs397507444
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0023418
Disease: leukemia
leukemia
0.020 1.000 2 2001 2006
dbSNP: rs1051266
rs1051266
0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06
CUI: C0023418
Disease: leukemia
leukemia
0.010 1.000 1 2001 2001
dbSNP: rs1258094111
rs1258094111
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: rs765669662
rs765669662
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: rs775144154
rs775144154
0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05
CUI: C0023418
Disease: leukemia
leukemia
0.010 1.000 1 2001 2001
dbSNP: rs1800562
rs1800562
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0023418
Disease: leukemia
leukemia
0.030 1.000 3 2002 2006
dbSNP: rs1275561861
rs1275561861
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0023418
Disease: leukemia
leukemia
0.010 1.000 1 2002 2002
dbSNP: rs387906553
rs387906553
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: rs11547328
rs11547328
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: rs762613037
rs762613037
0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06
CUI: C0023418
Disease: leukemia
leukemia
0.010 1.000 1 2003 2003
dbSNP: rs771138120
rs771138120
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: rs121913459
rs121913459
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0023418
Disease: leukemia
leukemia
0.100 1.000 18 2004 2018
dbSNP: rs1360131632
rs1360131632
0.827 0.080 17 42301316 missense variant C/T snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia
0.030 1.000 3 2004 2018
dbSNP: rs11545078
rs11545078
GGH
0.807 0.200 8 63026205 missense variant G/A snv 8.8E-02 7.8E-02
CUI: C0023418
Disease: leukemia
leukemia
0.010 1.000 1 2004 2004
dbSNP: rs121912438
rs121912438
0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0023418
Disease: leukemia
leukemia
0.010 1.000 1 2004 2004
dbSNP: rs121913448
rs121913448
0.827 0.120 9 130862976 missense variant G/A snv
CUI: C0023418
Disease: leukemia
leukemia
0.010 1.000 1 2004 2004
dbSNP: rs1416364034
rs1416364034
1.000 0.040 17 42300731 missense variant G/A snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia
0.010 1.000 1 2004 2004
dbSNP: rs387906517
rs387906517
0.827 0.120 9 130862919 missense variant G/A snv
CUI: C0023418
Disease: leukemia
leukemia
0.010 1.000 1 2004 2004
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023418
Disease: leukemia
leukemia
0.100 1.000 10 2006 2017
dbSNP: rs1799945
rs1799945
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0023418
Disease: leukemia
leukemia
0.010 1.000 1 2006 2006
dbSNP: rs35602083
rs35602083
0.851 0.040 13 28049450 missense variant C/T snv 1.7E-02 1.6E-02
CUI: C0023418
Disease: leukemia
leukemia
0.010 1.000 1 2006 2006
dbSNP: rs121434592
rs121434592
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia
0.050 1.000 5 2007 2010
dbSNP: rs121913507
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0023418
Disease: leukemia
leukemia
0.040 1.000 4 2007 2018