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: rs397514577
rs397514577
4 0.882 0.280 11 108317374 missense variant C/A snv 4.0E-06 0.800 1.000 25 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: rs587781302
rs587781302
2 1.000 0.200 11 108315863 missense variant A/G;T snv 0.800 1.000 22 1995 2017
dbSNP: rs786202826
rs786202826
3 0.925 0.280 11 108353805 missense variant A/G;T snv 4.0E-06 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: rs28904921
rs28904921
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.800 1.000 19 1996 2016
dbSNP: rs564652222
rs564652222
5 0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05 0.800 1.000 11 2003 2014
dbSNP: rs747727055
rs747727055
ATM
2 1.000 0.200 11 108245000 missense variant C/T snv 8.1E-06 1.4E-05 0.800 1.000 6 2000 2014
dbSNP: rs730881391
rs730881391
ATM
2 1.000 0.200 11 108289759 missense variant T/C snv 4.0E-06 0.800 1.000 5 1999 2014
dbSNP: rs587776551
rs587776551
ATM
4 1.000 0.200 11 108281168 missense variant G/A;T snv 1.6E-05 1.4E-05 0.720 1.000 9 1996 2020
dbSNP: rs587779852
rs587779852
4 0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05 0.720 1.000 9 1999 2014
dbSNP: rs587782652
rs587782652
5 0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 0.710 1.000 11 1989 2019
dbSNP: rs770641163
rs770641163
4 0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.710 1.000 9 2003 2019
dbSNP: rs587779815
rs587779815
ATM
2 1.000 0.200 11 108250804 stop gained C/T snv 8.0E-06 1.4E-05 0.710 1.000 8 1996 2016
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: 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