Gene: ATM ×
Source: CLINVAR ×
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: rs1057519364
rs1057519364
ATM
1 1.000 0.200 11 108253839 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs730881364
rs730881364
ATM
2 1.000 0.200 11 108284226 splice acceptor variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs770641163
rs770641163
ATM ; C11orf65
4 0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs778031266
rs778031266
ATM ; C11orf65
4 0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1555124587
rs1555124587
ATM ; C11orf65
1 1.000 0.200 11 108331957 stop gained G/T snv 0.700 0
dbSNP: rs376824528
rs376824528
ATM ; C11orf65
1 1.000 0.200 11 108332789 missense variant A/G snv 1.6E-05 4.2E-05 0.700 0