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: rs1569339085
rs1569339085
ASXL1
1 1.000 0.240 20 32436772 stop gained G/T snv 0.700 1.000 2 2014 2016
dbSNP: rs1555901138
rs1555901138
ASXL1
1 1.000 0.240 20 32369088 stop gained A/T snv 0.700 0
dbSNP: rs1555912709
rs1555912709
ASXL1
1 1.000 0.240 20 32436462 frameshift variant GACAG/- delins 0.700 0
dbSNP: rs1569324457
rs1569324457
ASXL1
7 0.851 0.280 20 32433481 frameshift variant AG/- del 0.700 0
dbSNP: rs1569337176
rs1569337176
ASXL1
1 1.000 0.240 20 32436347 frameshift variant C/- delins 0.700 0
dbSNP: rs1569337452
rs1569337452
ASXL1
1 1.000 0.240 20 32436412 stop gained C/T snv 0.700 0
dbSNP: rs200702600
rs200702600
ASXL1
1 1.000 0.240 20 32435795 stop gained C/A;T snv 8.4E-05 0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs387907077
rs387907077
ASXL1
1 1.000 0.240 20 32435485 stop gained C/T snv 0.700 0
dbSNP: rs387907078
rs387907078
ASXL1
1 1.000 0.240 20 32434909 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs397515401
rs397515401
ASXL1
1 1.000 0.240 20 32435605 stop gained C/T snv 1.2E-05; 1.6E-04 0.700 0
dbSNP: rs750318549
rs750318549
ASXL1
1 1.000 0.240 20 32434639 frameshift variant GG/-;G;GGG delins 7.1E-06 0.700 0
dbSNP: rs764651405
rs764651405
ASXL1
1 1.000 0.240 20 32435914 stop gained C/T snv 0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
21 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
dbSNP: rs119477056
rs119477056
CD96
2 0.925 0.240 3 111585362 missense variant C/A;T snv 2.4E-05 0.010 1.000 1 2007 2007