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: rs1021662947
rs1021662947
1 16 23614039 stop gained G/A snv 0.700 0
dbSNP: rs1023534466
rs1023534466
1 2 47795984 frameshift variant TAAA/- delins 0.700 0
dbSNP: rs1025339570
rs1025339570
ATM
1 11 108249045 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs1028347439
rs1028347439
1 17 61801267 stop gained G/A snv 0.700 0
dbSNP: rs104894094
rs104894094
12 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.700 0
dbSNP: rs104894259
rs104894259
2 1.000 0.120 11 64805078 missense variant A/G;T snv 0.700 0
dbSNP: rs104894267
rs104894267
2 1.000 0.120 11 64804789 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs104894307
rs104894307
5 0.851 0.200 11 112086908 start lost A/G;T snv 8.0E-06 0.700 0
dbSNP: rs1049900772
rs1049900772
ATM
1 11 108279546 stop gained A/G;T snv 0.700 0
dbSNP: rs1054003194
rs1054003194
2 2 47800892 frameshift variant GGG/-;GG;GGGG delins 0.700 0
dbSNP: rs1057516238
rs1057516238
ATM
2 1.000 0.200 11 108287599 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1057516291
rs1057516291
3 0.925 0.120 9 95240655 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1057516668
rs1057516668
NBN
2 1.000 0.040 8 89946236 frameshift variant T/- delins 0.700 0
dbSNP: rs1057516772
rs1057516772
NBN
2 1.000 0.040 8 89982719 splice region variant CAGGTTGGTTAC/- delins 0.700 0
dbSNP: rs1057516944
rs1057516944
ATM
2 1.000 0.200 11 108267310 frameshift variant CA/- del 0.700 0
dbSNP: rs1057516981
rs1057516981
ATM
2 1.000 0.200 11 108281133 stop gained A/T snv 0.700 0
dbSNP: rs1057517140
rs1057517140
ATM
2 1.000 0.200 11 108287622 frameshift variant TACCAGAGATT/- delins 0.700 0
dbSNP: rs1057517209
rs1057517209
NBN
2 1.000 0.040 8 89958724 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1057517226
rs1057517226
ATM
2 1.000 0.200 11 108282709 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1057517457
rs1057517457
6 0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 0.700 0
dbSNP: rs1057517539
rs1057517539
2 1.000 0.080 16 23629214 stop gained G/T snv 0.700 0
dbSNP: rs1057517542
rs1057517542
2 1.000 0.080 16 68829653 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057517551
rs1057517551
3 1.000 0.160 2 47798890 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517585
rs1057517585
2 1.000 0.080 16 23641155 start lost C/T snv 0.700 0
dbSNP: rs1057517600
rs1057517600
2 1.000 0.080 16 23607958 frameshift variant G/- del 0.700 0