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: rs747281324
rs747281324
BLM
1 1.000 0.120 15 90763098 missense variant A/G snv 2.4E-05 1.4E-05 0.800 1.000 14 1995 2015
dbSNP: rs367543029
rs367543029
BLM
2 1.000 0.120 15 90794311 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.800 1.000 9 1995 2009
dbSNP: rs137853153
rs137853153
BLM
1 1.000 0.120 15 90794254 missense variant G/T snv 0.800 1.000 5 1995 2009
dbSNP: rs200389141
rs200389141
BLM
11 0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 0.710 1.000 10 2007 2017
dbSNP: rs587779884
rs587779884
BLM
1 1.000 0.120 15 90784953 stop gained C/T snv 6.4E-05 3.5E-05 0.700 1.000 7 2000 2016
dbSNP: rs113993962
rs113993962
BLM
2 1.000 0.120 15 90766923 frameshift variant ATCTGA/TAGATTC delins 2.0E-04 0.700 1.000 6 1995 2013
dbSNP: rs886051551
rs886051551
BLM
1 1.000 0.120 15 90766921 frameshift variant -/T delins 0.700 1.000 6 1995 2016
dbSNP: rs373525781
rs373525781
BLM
2 1.000 0.120 15 90763016 stop gained C/T snv 4.4E-05 8.4E-05 0.700 1.000 5 2007 2016
dbSNP: rs764086459
rs764086459
BLM
1 1.000 0.120 15 90811246 frameshift variant G/- delins 4.0E-06 0.700 1.000 5 1997 2016
dbSNP: rs148969222
rs148969222
BLM
2 1.000 0.120 15 90803721 splice donor variant G/A;T snv 4.0E-06; 2.4E-05 0.700 1.000 4 2007 2015
dbSNP: rs1567040469
rs1567040469
BLM
1 1.000 0.120 15 90760149 stop gained A/T snv 0.700 1.000 4 2007 2015
dbSNP: rs367543043
rs367543043
BLM
1 1.000 0.120 15 90760909 frameshift variant A/-;AA delins 0.700 1.000 4 1995 2017
dbSNP: rs750293380
rs750293380
BLM
1 1.000 0.120 15 90747491 splice donor variant G/A;C;T snv 1.3E-05; 2.6E-05; 4.3E-06; 1.3E-05 0.700 1.000 4 2007 2016
dbSNP: rs1057516261
rs1057516261
BLM
1 1.000 0.120 15 90811327 frameshift variant AGGAA/- delins 0.700 1.000 3 1997 2016
dbSNP: rs1057516964
rs1057516964
BLM
1 1.000 0.120 15 90760657 stop gained G/A snv 7.0E-06 0.700 1.000 3 2007 2018
dbSNP: rs137853152
rs137853152
BLM
1 1.000 0.120 15 90769559 missense variant C/T snv 0.700 1.000 3 1995 2000
dbSNP: rs367543013
rs367543013
BLM
1 1.000 0.120 15 90750036 frameshift variant CT/- delins 0.700 1.000 3 2007 2015
dbSNP: rs367543033
rs367543033
BLM
1 1.000 0.120 15 90803637 frameshift variant TT/- del 0.700 1.000 3 2007 2015
dbSNP: rs587779886
rs587779886
BLM
1 1.000 0.120 15 90794359 splice donor variant T/- del 2.8E-05 0.700 1.000 3 2007 2018
dbSNP: rs758311406
rs758311406
BLM
1 1.000 0.120 15 90784960 missense variant G/A snv 4.0E-06 0.700 1.000 3 1995 2000
dbSNP: rs1057516700
rs1057516700
BLM
1 1.000 0.120 15 90785079 stop gained C/T snv 0.700 1.000 2 2008 2015
dbSNP: rs150421256
rs150421256
BLM
1 1.000 0.120 15 90811203 splice acceptor variant A/G snv 8.0E-06 0.700 1.000 2 2007 2015
dbSNP: rs367543019
rs367543019
BLM
1 1.000 0.120 15 90769518 frameshift variant -/A delins 0.700 1.000 2 2007 2015
dbSNP: rs587783037
rs587783037
BLM
1 1.000 0.120 15 90803577 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 2 2007 2013
dbSNP: rs772785079
rs772785079
BLM
1 1.000 0.120 15 90763050 frameshift variant -/G delins 1.2E-05 1.4E-05 0.700 1.000 2 2007 2015