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: rs730881386
rs730881386
2 1.000 0.200 11 108365324 splice acceptor variant G/A;C snv 0.700 1.000 12 1996 2017
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: rs587779866
rs587779866
3 0.925 0.280 11 108331877 splice acceptor variant A/C;G snv 8.0E-06 0.700 1.000 11 1998 2016
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: rs587782719
rs587782719
4 0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 11 2006 2017
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
dbSNP: rs786203606
rs786203606
ATM
2 1.000 0.200 11 108227626 start lost T/C snv 4.0E-06 7.0E-06 0.700 1.000 10 1996 2012
dbSNP: rs121434219
rs121434219
3 0.925 0.200 11 108365476 stop gained C/T snv 1.6E-05 7.0E-06 0.700 1.000 9 1996 2016
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: rs587781927
rs587781927
ATM
2 1.000 0.200 11 108293479 splice donor variant T/A;C snv 4.0E-06 0.700 1.000 9 1989 2014
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: rs781404312
rs781404312
ATM
2 1.000 0.200 11 108227627 start lost G/A snv 4.0E-06 1.4E-05 0.700 1.000 9 1996 2012
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: rs730881369
rs730881369
ATM
3 0.925 0.280 11 108289761 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.700 1.000 8 1999 2015
dbSNP: rs876660382
rs876660382
2 1.000 0.200 11 108365356 stop gained G/A;T snv 4.0E-06 0.700 1.000 8 1996 2016
dbSNP: rs377349459
rs377349459
3 0.925 0.280 11 108332886 stop gained G/A snv 4.0E-06 5.6E-05 0.700 1.000 7 1998 2016
dbSNP: rs55861249
rs55861249
ATM
3 0.925 0.280 11 108227806 stop gained C/A;T snv 7.2E-05; 2.0E-05 0.700 1.000 7 1996 2016
dbSNP: rs587782124
rs587782124
ATM
2 1.000 0.200 11 108252914 splice donor variant T/G snv 4.0E-06 0.700 1.000 7 1998 2014
dbSNP: rs730881346
rs730881346
ATM
3 0.925 0.280 11 108257471 intron variant T/G snv 8.0E-06 7.0E-06 0.700 1.000 7 1998 2016
dbSNP: rs748840480
rs748840480
ATM
3 0.925 0.280 11 108245027 splice donor variant G/A;C;T snv 1.6E-05 0.700 1.000 7 2003 2018
dbSNP: rs780619951
rs780619951
ATM
3 0.925 0.280 11 108259022 stop gained C/G;T snv 4.0E-05 0.700 1.000 7 1996 2014
dbSNP: rs786204433
rs786204433
ATM
2 1.000 0.200 11 108304822 stop gained C/T snv 7.0E-06 0.700 1.000 7 2003 2015
dbSNP: rs587778080
rs587778080
2 1.000 0.200 11 108345869 stop gained C/A;G;T snv 4.0E-06 7.0E-06 0.700 1.000 6 1999 2016
dbSNP: rs587779818
rs587779818
ATM
2 1.000 0.200 11 108227873 stop gained G/A snv 7.0E-06 0.700 1.000 6 2000 2016