Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs730881369
ATM
0.925 0.280 11 108289761 stop gained C/G;T snv 4.0E-06; 1.6E-05 3
rs748840480
ATM
0.925 0.280 11 108245027 splice donor variant G/A;C;T snv 1.6E-05 3
rs749036865
ATM
0.925 0.280 11 108250834 stop gained C/A;G;T snv 8.0E-06; 4.0E-06 3
rs768362387
ATM
0.851 0.360 11 108253846 stop gained C/A snv 3
rs780619951
ATM
0.925 0.280 11 108259022 stop gained C/G;T snv 4.0E-05 3
rs786202743
ATM
0.925 0.280 11 108254013 stop gained C/T snv 3
rs869312754
ATM
0.925 0.120 11 108227594 splice acceptor variant G/T snv 3
rs869312755
ATM
0.925 0.280 11 108293436 stop gained C/T snv 3
rs1185204988
ATM
0.925 0.280 11 108248987 stop gained C/G;T snv 4.0E-06 2
rs1555093684
ATM
0.925 0.280 11 108284414 frameshift variant GA/- delins 2
rs758081262
ATM
0.851 0.360 11 108267258 stop gained C/T snv 1.2E-05 2
rs730881333
ATM
0.882 0.280 11 108243994 stop gained C/A;T snv 4.1E-06; 8.1E-06 1
rs587782652
ATM ; C11orf65
0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 5
rs17174393
ATM ; C11orf65
0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05 4
rs770641163
ATM ; C11orf65
0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05 4
rs1555119041
ATM ; C11orf65
0.925 0.280 11 108325352 stop gained G/A;T snv 3
rs587779866
ATM ; C11orf65
0.925 0.280 11 108331877 splice acceptor variant A/C;G snv 8.0E-06 3
rs777741666
ATM ; C11orf65
0.925 0.080 11 108327759 splice donor variant G/A;T snv 3
rs786202826
ATM ; C11orf65
0.925 0.280 11 108353805 missense variant A/G;T snv 4.0E-06 3
rs769142993
ATM ; C11orf65
0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 2
rs56399857
ATM ; C11orf65
1.000 0.080 11 108330381 missense variant T/G snv 9.9E-05 1.8E-04 1
rs2273535
AURKA
0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 1
rs730882193
AXIN2
0.807 0.200 17 65536472 stop gained C/G;T snv 1
rs587780021
BARD1
0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05 4
rs587780024
BARD1
0.925 0.200 2 214730458 stop gained CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC delins 3