Gene: BLM ×
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: 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 0.700 1.000 12 2007 2016
dbSNP: rs113993962
rs113993962
BLM
2 1.000 0.120 15 90766923 frameshift variant ATCTGA/TAGATTC delins 2.0E-04 0.700 1.000 11 1995 2013
dbSNP: rs367543029
rs367543029
BLM
2 1.000 0.120 15 90794311 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.700 1.000 4 1995 2007
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 4 2007 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 2 2014 2015
dbSNP: rs780379121
rs780379121
BLM
2 1.000 0.120 15 90794175 frameshift variant G/- del 1.2E-05 2.1E-05 0.700 1.000 2 2007 2015
dbSNP: rs367543014
rs367543014
BLM
2 1.000 0.120 15 90790747 frameshift variant C/- delins 1.4E-05 0.700 1.000 1 2007 2007
dbSNP: rs367543024
rs367543024
BLM
2 1.000 0.120 15 90769537 frameshift variant AG/- del 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs1555419889
rs1555419889
BLM
1 15 90760871 frameshift variant T/- delins 0.700 0
dbSNP: rs730881429
rs730881429
BLM
1 15 90760758 frameshift variant C/- del 0.700 0