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: rs1043679457
rs1043679457
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1057518796
rs1057518796
3 1.000 6 33443751 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518821
rs1057518821
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs1057518936
rs1057518936
3 0.925 0.120 19 7541025 missense variant C/G snv 0.700 0
dbSNP: rs1057518965
rs1057518965
ATM
5 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0
dbSNP: rs121908681
rs121908681
7 0.851 0.160 22 38120867 missense variant T/C;G snv 2.4E-05 0.700 0
dbSNP: rs1345176461
rs1345176461
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs137853066
rs137853066
7 0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs145465528
rs145465528
7 0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05 0.700 0
dbSNP: rs149595793
rs149595793
3 1.000 X 70492544 missense variant G/A snv 3.3E-05 6.6E-05 0.700 0
dbSNP: rs1554555063
rs1554555063
7 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
dbSNP: rs1554768245
rs1554768245
16 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
dbSNP: rs1555661648
rs1555661648
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs1555745467
rs1555745467
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs1561515242
rs1561515242
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
dbSNP: rs1563945076
rs1563945076
4 0.925 0.160 9 32974556 frameshift variant A/- del 0.700 0
dbSNP: rs1564617866
rs1564617866
7 0.925 0.200 10 78000983 missense variant T/G snv 0.700 0
dbSNP: rs1565339091
rs1565339091
4 1.000 0.200 11 124924796 missense variant T/C snv 0.700 0
dbSNP: rs1568440440
rs1568440440
3 0.925 0.120 19 13228767 stop gained GT/- delins 0.700 0
dbSNP: rs267608327
rs267608327
25 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
dbSNP: rs28936415
rs28936415
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs372445155
rs372445155
7 0.851 0.280 18 23554890 missense variant G/A snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs374434303
rs374434303
4 0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-05 0.700 0
dbSNP: rs375244209
rs375244209
2 1.000 0.040 7 76302870 missense variant G/A snv 1.1E-05 0.700 0
dbSNP: rs387906799
rs387906799
19 0.742 0.200 2 240788118 missense variant G/A snv 0.700 0