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: rs587782292
rs587782292
2 1.000 0.200 11 108365359 missense variant C/G;T snv 1.6E-05 2.1E-05 0.810 1.000 29 1995 2017
dbSNP: rs786203054
rs786203054
ATM
2 1.000 0.200 11 108271074 missense variant T/A;G snv 0.800 1.000 27 1995 2017
dbSNP: rs587779872
rs587779872
4 1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05 0.800 1.000 25 1995 2017
dbSNP: rs121434216
rs121434216
2 0.925 0.200 11 108345804 missense variant T/G snv 0.800 1.000 23 1995 2017
dbSNP: rs587781511
rs587781511
ATM
1 1.000 0.200 11 108247029 missense variant A/G snv 8.0E-06 7.0E-06 0.800 1.000 23 1995 2017
dbSNP: rs587782202
rs587782202
2 1.000 0.200 11 108345870 missense variant G/A;C snv 2.0E-05 0.800 1.000 23 1995 2017
dbSNP: rs121434218
rs121434218
2 0.925 0.200 11 108333925 missense variant T/C;G snv 0.700 1.000 22 1995 2017
dbSNP: rs1555114558
rs1555114558
1 1.000 0.200 11 108317377 missense variant T/C snv 0.700 1.000 22 1995 2017
dbSNP: rs587781302
rs587781302
2 1.000 0.200 11 108315863 missense variant A/G;T snv 0.800 1.000 22 1995 2017
dbSNP: rs876659365
rs876659365
2 1.000 0.200 11 108330314 missense variant T/G snv 0.800 1.000 22 1995 2017
dbSNP: rs876659735
rs876659735
1 1.000 0.200 11 108335063 missense variant T/G snv 7.0E-06 0.700 1.000 22 1995 2017
dbSNP: rs876660927
rs876660927
1 1.000 0.200 11 108345795 missense variant G/A;C snv 0.700 1.000 22 1995 2017
dbSNP: rs587778065
rs587778065
ATM
1 1.000 0.200 11 108257583 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 20 1995 2017
dbSNP: rs587779844
rs587779844
ATM
2 1.000 0.200 11 108301698 missense variant C/G;T snv 1.6E-05 7.0E-06 0.700 1.000 20 1995 2017
dbSNP: rs777301065
rs777301065
ATM
1 1.000 0.200 11 108251938 missense variant T/C snv 8.0E-06 0.700 1.000 20 1995 2017
dbSNP: rs780905851
rs780905851
2 1.000 0.200 11 108345889 missense variant T/A;C;G snv 8.0E-06; 4.0E-06 0.700 1.000 20 1995 2017
dbSNP: rs121434220
rs121434220
2 1.000 0.200 11 108330233 stop gained C/T snv 4.0E-06 0.700 1.000 14 1996 2016
dbSNP: rs371638537
rs371638537
2 1.000 0.200 11 108335959 stop gained A/C;G;T snv 1.6E-05 0.700 1.000 13 1996 2016
dbSNP: rs587780645
rs587780645
2 1.000 0.200 11 108365415 frameshift variant -/A delins 0.700 1.000 12 1996 2016
dbSNP: rs730881294
rs730881294
2 1.000 0.200 11 108335957 frameshift variant ATAAG/- del 8.0E-06 2.8E-05 0.700 1.000 12 1998 2016
dbSNP: rs730881386
rs730881386
2 1.000 0.200 11 108365324 splice acceptor variant G/A;C snv 0.700 1.000 12 1996 2017
dbSNP: rs1450394308
rs1450394308
2 1.000 0.200 11 108332851 frameshift variant TATTA/- delins 4.0E-06 0.700 1.000 11 1996 2015
dbSNP: rs267606668
rs267606668
2 1.000 0.200 11 108332848 missense variant TG/GC mnv 0.700 1.000 10 1998 2016
dbSNP: rs587781347
rs587781347
ATM
2 1.000 0.200 11 108250867 frameshift variant AA/- del 4.0E-05 3.5E-05 0.700 1.000 10 1998 2015
dbSNP: rs774925473
rs774925473
3 0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05 0.700 1.000 10 1996 2015