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: rs1800709
rs1800709
6 0.851 0.160 17 43093010 missense variant G/A snv 1.7E-03 1.4E-03 0.010 1.000 1 1996 1996
dbSNP: rs28897696
rs28897696
11 0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05 0.010 1.000 1 1996 1996
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1997 1998
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.720 1.000 2 1997 1998
dbSNP: rs2227564
rs2227564
15 0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81 0.010 1.000 1 1997 1997
dbSNP: rs2070074
rs2070074
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1998 2003
dbSNP: rs397516436
rs397516436
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.010 1.000 1 1998 1998