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: 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: 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: rs587776552
rs587776552
ATM
1 1.000 0.200 11 108270483 intron variant AAGT/- delins 0.700 1.000 2 2002 2004
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: 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: 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: 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: 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: 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
dbSNP: rs730881336
rs730881336
ATM
3 0.925 0.280 11 108244867 stop gained C/T snv 8.0E-06 0.700 1.000 6 1998 2017
dbSNP: rs864622490
rs864622490
ATM
2 1.000 0.200 11 108282796 stop gained G/A snv 4.0E-06 1.4E-05 0.700 1.000 6 1999 2014
dbSNP: rs376603775
rs376603775
ATM
3 0.925 0.280 11 108304801 stop gained C/A;T snv 2.0E-05 3.5E-05 0.700 1.000 5 1998 2016
dbSNP: rs532480170
rs532480170
5 0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06 0.700 1.000 5 1996 2016
dbSNP: rs557012154
rs557012154
ATM
2 1.000 0.200 11 108244927 stop gained C/T snv 4.0E-06 0.700 1.000 5 1997 2009
dbSNP: rs764389018
rs764389018
ATM
2 1.000 0.200 11 108301658 stop gained C/G;T snv 8.0E-06 7.0E-06 0.700 1.000 5 1999 2012
dbSNP: rs786204751
rs786204751
ATM
2 1.000 0.200 11 108304693 stop gained C/T snv 0.700 1.000 5 1998 2012
dbSNP: rs587779833
rs587779833
ATM
3 0.925 0.280 11 108279578 stop gained C/G snv 4.0E-06 7.0E-06 0.700 1.000 4 1999 2017