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: rs1328985852
rs1328985852
ATM
1 1.000 0.200 11 108267170 splice acceptor variant G/A snv 4.0E-06 0.700 1.000 2 2013 2014
dbSNP: rs1402299151
rs1402299151
ATM
1 1.000 0.200 11 108256214 splice acceptor variant G/A snv 4.0E-06 0.700 1.000 2 2013 2014
dbSNP: rs145053092
rs145053092
ATM
1 1.000 0.200 11 108244795 missense variant A/G snv 8.4E-05 9.1E-05 0.700 1.000 2 2010 2014
dbSNP: rs1555069881
rs1555069881
ATM
1 1.000 0.200 11 108249103 splice donor variant G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs1555073553
rs1555073553
ATM
1 1.000 0.200 11 108254040 splice donor variant G/T snv 0.700 1.000 2 2013 2014
dbSNP: rs1555084832
rs1555084832
ATM
1 1.000 0.200 11 108271199 splice acceptor variant GTGTTCTGTTAAGCTTATAAAGTTGAACTTTTTTTTTTTTTTTACCACAGCAATGTGTGTTCTTTGTAT/- delins 0.700 1.000 2 2013 2014
dbSNP: rs1555091238
rs1555091238
ATM
1 1.000 0.200 11 108281067 frameshift variant -/GGTTTTATCCTGT delins 0.700 1.000 2 2013 2014
dbSNP: rs1555092219
rs1555092219
ATM
1 1.000 0.200 11 108282700 splice acceptor variant TTCGTGCAGGTTTTAG/- delins 0.700 1.000 2 2013 2014
dbSNP: rs1555092430
rs1555092430
ATM
1 1.000 0.200 11 108282806 stop gained C/T snv 0.700 1.000 2 2003 2017
dbSNP: rs1555100037
rs1555100037
ATM
1 1.000 0.200 11 108292791 stop gained C/T snv 0.700 1.000 2 2000 2009
dbSNP: rs1555114545
rs1555114545
ATM ; C11orf65
1 1.000 0.200 11 108317371 splice acceptor variant A/- del 0.700 1.000 2 2013 2014
dbSNP: rs1555117071
rs1555117071
ATM ; C11orf65
1 1.000 0.200 11 108321300 splice acceptor variant G/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1555122938
rs1555122938
ATM ; C11orf65
1 1.000 0.200 11 108330212 splice acceptor variant A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1555125532
rs1555125532
ATM ; C11orf65
1 1.000 0.200 11 108332901 splice donor variant G/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1555137917
rs1555137917
ATM ; C11orf65
1 1.000 0.200 11 108345741 splice acceptor variant A/G snv 0.700 1.000 2 2013 2014
dbSNP: rs1555142918
rs1555142918
ATM ; C11orf65
1 1.000 0.200 11 108353882 splice donor variant T/A snv 0.700 1.000 2 2013 2014
dbSNP: rs1565381646
rs1565381646
ATM
1 1.000 0.200 11 108250699 splice acceptor variant A/- del 0.700 1.000 2 2013 2014
dbSNP: rs1565385010
rs1565385010
ATM
1 1.000 0.200 11 108251836 splice acceptor variant G/A;C snv 0.700 1.000 2 2013 2014
dbSNP: rs1565394403
rs1565394403
ATM
1 1.000 0.200 11 108256213 splice acceptor variant A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs1565395193
rs1565395193
ATM
1 1.000 0.200 11 108256341 splice donor variant G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs1565461840
rs1565461840
ATM
1 1.000 0.200 11 108292794 splice donor variant G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs1565479572
rs1565479572
ATM
1 1.000 0.200 11 108303028 splice donor variant TAAG/- delins 0.700 1.000 2 2013 2014
dbSNP: rs1565521129
rs1565521129
ATM ; C11orf65
1 1.000 0.200 11 108326226 splice donor variant G/T snv 0.700 1.000 2 2013 2014
dbSNP: rs1565532703
rs1565532703
ATM ; C11orf65
1 1.000 0.200 11 108331558 splice donor variant G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs1565534524
rs1565534524
ATM ; C11orf65
1 1.000 0.200 11 108332038 splice donor variant G/T snv 0.700 1.000 2 2013 2014