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: 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 2016
dbSNP: rs864622185
rs864622185
2 1.000 0.200 11 108332759 splice region variant T/G snv 4.0E-06 0.700 1.000 7 1996 2015
dbSNP: rs121434220
rs121434220
2 1.000 0.200 11 108330233 stop gained C/T snv 4.0E-06 0.700 1.000 6 1996 2016
dbSNP: rs397514577
rs397514577
4 0.882 0.280 11 108317374 missense variant C/A snv 4.0E-06 0.700 1.000 6 1999 2015
dbSNP: rs587781363
rs587781363
2 1.000 0.200 11 108345797 stop gained C/T snv 0.700 1.000 6 1997 2015
dbSNP: rs748634900
rs748634900
2 1.000 0.200 11 108343246 missense variant G/A snv 8.0E-06 0.700 1.000 6 1999 2015
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 5 1996 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 2011
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 5 1996 2013
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 5 1989 2011
dbSNP: rs730881389
rs730881389
ATM
2 1.000 0.200 11 108284328 missense variant T/C snv 7.0E-06 0.700 1.000 5 1999 2011
dbSNP: rs772926890
rs772926890
ATM
2 1.000 0.200 11 108251073 splice donor variant G/T snv 8.0E-06 0.700 1.000 5 1998 2009
dbSNP: rs775036118
rs775036118
ATM
2 1.000 0.200 11 108307914 stop gained C/T snv 8.0E-06 0.700 1.000 5 2006 2014
dbSNP: rs786203054
rs786203054
ATM
2 1.000 0.200 11 108271074 missense variant T/A;G snv 0.700 1.000 5 1999 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 5 1999 2014
dbSNP: rs1131691164
rs1131691164
ATM
3 0.925 0.280 11 108292689 stop gained C/T snv 8.0E-06 4.2E-05 0.700 1.000 4 1998 2015
dbSNP: rs138941496
rs138941496
3 0.925 0.280 11 108332765 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 4 1996 2004
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 4 1999 2016
dbSNP: rs587781722
rs587781722
3 0.925 0.280 11 108310305 stop gained C/T snv 3.2E-05 2.0E-04 0.700 1.000 4 1998 2015
dbSNP: rs587782114
rs587782114
1 11 108317500 stop gained G/A snv 0.700 1.000 4 2008 2015
dbSNP: rs587782124
rs587782124
ATM
2 1.000 0.200 11 108252914 splice donor variant T/G snv 4.0E-06 0.700 1.000 4 1998 2013
dbSNP: rs730881336
rs730881336
ATM
3 0.925 0.280 11 108244867 stop gained C/T snv 8.0E-06 0.700 1.000 4 1998 2016
dbSNP: rs730881391
rs730881391
ATM
2 1.000 0.200 11 108289759 missense variant T/C snv 4.0E-06 0.700 1.000 4 1999 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 4 2003 2017
dbSNP: rs752135143
rs752135143
ATM
2 1.000 0.200 11 108229328 splice region variant G/A snv 4.0E-06 0.700 1.000 4 2009 2012