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: rs63750695
rs63750695
6 0.851 0.280 7 5978675 frameshift variant AAGTT/- delins 0.700 0
dbSNP: rs778705666
rs778705666
1 1.000 0.120 17 2030174 missense variant C/T snv 0.700 0
dbSNP: rs80187739
rs80187739
5 0.851 0.200 17 43067608 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs80356898
rs80356898
11 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs80356993
rs80356993
3 0.925 0.120 17 43063937 missense variant A/G;T snv 0.700 0
dbSNP: rs80357233
rs80357233
4 0.882 0.200 17 43093393 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs80357438
rs80357438
5 0.851 0.200 17 43124032 stop gained A/G;T snv 0.700 0
dbSNP: rs80357462
rs80357462
1 1.000 0.120 17 43057083 missense variant G/A;C snv 0.700 0
dbSNP: rs80357474
rs80357474
5 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 0.700 0
dbSNP: rs80357669
rs80357669
5 0.851 0.200 17 43093074 frameshift variant G/- delins 0.700 0
dbSNP: rs80357828
rs80357828
3 0.882 0.200 17 43092155 frameshift variant GA/- delins 0.700 0
dbSNP: rs80358479
rs80358479
1 1.000 0.120 13 32333367 missense variant C/T snv 2.1E-04 1.2E-04 0.700 0
dbSNP: rs80358981
rs80358981
7 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs80359078
rs80359078
3 0.882 0.160 13 32370430 missense variant G/A snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs80359176
rs80359176
1 1.000 0.120 13 32380076 missense variant C/T snv 3.6E-05 7.0E-06 0.700 0
dbSNP: rs80359477
rs80359477
5 0.851 0.200 13 32339386 frameshift variant AA/-;A delins 0.700 0
dbSNP: rs869312756
rs869312756
ATM
3 0.925 0.320 11 108307985 splice donor variant G/A;T snv 0.700 0
dbSNP: rs869312774
rs869312774
3 0.925 0.160 16 23614019 frameshift variant T/- delins 0.700 0
dbSNP: rs13281615
rs13281615
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.010 < 0.001 1 2017 2017
dbSNP: rs1760944
rs1760944
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1801200
rs1801200
7 0.790 0.200 17 39723335 missense variant A/G;T snv 0.010 < 0.001 1 2018 2018
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 0.010 < 0.001 1 2015 2015
dbSNP: rs2146323
rs2146323
13 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 0.010 < 0.001 1 2010 2010
dbSNP: rs2494938
rs2494938
11 0.752 0.240 6 40568389 intron variant G/A snv 0.51 0.010 < 0.001 1 2014 2014
dbSNP: rs3025033
rs3025033
6 0.807 0.360 6 43783338 non coding transcript exon variant A/G snv 0.18 0.010 < 0.001 1 2010 2010