Gene: ATM ×
Source: ALL
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: rs1057516944
rs1057516944
ATM
2 1.000 0.200 11 108267310 frameshift variant CA/- del 0.700 0
dbSNP: rs1057516980
rs1057516980
ATM
1 1.000 0.200 11 108258985 frameshift variant -/AA delins 0.700 0
dbSNP: rs1057516981
rs1057516981
ATM
2 1.000 0.200 11 108281133 stop gained A/T snv 0.700 1.000 1 2008 2008
dbSNP: rs1057517025
rs1057517025
ATM ; C11orf65
1 1.000 0.200 11 108332014 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1057517097
rs1057517097
ATM
1 1.000 0.200 11 108272796 frameshift variant -/T delins 0.700 0
dbSNP: rs1057517100
rs1057517100
ATM
1 1.000 0.200 11 108284467 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517101
rs1057517101
ATM
1 1.000 0.200 11 108302881 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517120
rs1057517120
ATM ; C11orf65
1 1.000 0.200 11 108317522 splice donor variant G/A snv 7.3E-06 0.700 1.000 3 1999 2014
dbSNP: rs1057517129
rs1057517129
ATM
1 1.000 0.200 11 108282733 frameshift variant TT/-;T delins 0.700 1.000 3 1999 2000
dbSNP: rs1057517140
rs1057517140
ATM
2 1.000 0.200 11 108287622 frameshift variant TACCAGAGATT/- delins 0.700 0
dbSNP: rs1057517213
rs1057517213
ATM
1 1.000 0.200 11 108284225 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057517226
rs1057517226
ATM
2 1.000 0.200 11 108282709 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1057517248
rs1057517248
ATM
1 1.000 0.200 11 108256215 frameshift variant A/- del 0.700 0
dbSNP: rs1057517253
rs1057517253
ATM
1 1.000 0.200 11 108271102 stop gained C/G snv 0.700 1.000 1 2012 2012
dbSNP: rs1057517300
rs1057517300
ATM
1 1.000 0.200 11 108252866 frameshift variant A/- delins 0.700 0
dbSNP: rs1057517302
rs1057517302
ATM ; C11orf65
1 1.000 0.200 11 108319953 splice acceptor variant G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs1057517358
rs1057517358
ATM
1 1.000 0.200 11 108252815 splice acceptor variant A/G snv 0.700 1.000 2 2013 2014
dbSNP: rs1057517427
rs1057517427
ATM
1 1.000 0.200 11 108297383 splice donor variant G/T snv 7.0E-06 0.700 0
dbSNP: rs1057517452
rs1057517452
ATM
1 1.000 0.200 11 108293393 frameshift variant T/- delins 0.700 0
dbSNP: rs1057518965
rs1057518965
ATM
5 0.882 0.320 11 108244812 frameshift variant A/- delins 0.700 0
dbSNP: rs1057519330
rs1057519330
ATM
1 1.000 0.200 11 108249059 frameshift variant G/- del 0.700 1.000 1 2016 2016
dbSNP: rs1057520640
rs1057520640
ATM
2 1.000 0.200 11 108287712 stop gained C/A snv 7.0E-06 0.700 0
dbSNP: rs1060501525
rs1060501525
ATM ; C11orf65
1 1.000 0.200 11 108329222 frameshift variant AA/- delins 0.700 0
dbSNP: rs1060501528
rs1060501528
ATM
1 1.000 0.200 11 108287642 stop gained G/T snv 0.700 0
dbSNP: rs1060501529
rs1060501529
ATM
1 1.000 0.200 11 108250978 frameshift variant TT/- delins 0.700 0