Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587781722
C11orf65 ; ATM
0.925 0.280 11 108310305 stop gained C/T snv 3.2E-05 2.0E-04 3
rs587779852
C11orf65 ; ATM
0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05 3
rs139770721
C11orf65 ; ATM
0.925 0.280 11 108315911 missense variant G/A snv 2.8E-05 7.0E-06 3
rs532480170
C11orf65 ; ATM
0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06 5
rs397514577
C11orf65 ; ATM
0.882 0.280 11 108317374 missense variant C/A snv 4.0E-06 4
rs1565503137
C11orf65 ; ATM
0.925 0.280 11 108317446 frameshift variant G/- delins 2
rs1555119041
ATM ; C11orf65
0.925 0.280 11 108325352 stop gained G/A;T snv 3
rs564652222
C11orf65 ; ATM
0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05 3
rs777741666
ATM ; C11orf65
0.925 0.080 11 108327759 splice donor variant G/A;T snv 3
rs28904921
C11orf65 ; ATM
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 7
rs56399857
ATM ; C11orf65
1.000 0.080 11 108330381 missense variant T/G snv 9.9E-05 1.8E-04 1
rs769142993
ATM ; C11orf65
0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 2
rs786203059
C11orf65 ; ATM
0.925 0.280 11 108331559 splice donor variant T/C snv 4.0E-06 7.0E-06 3
rs587779866
ATM ; C11orf65
0.925 0.280 11 108331877 splice acceptor variant A/C;G snv 8.0E-06 3
rs587776547
C11orf65 ; ATM
0.882 0.320 11 108331885 inframe deletion TAGAATTTC/- delins 2.8E-05 1.4E-05 4
rs138941496
C11orf65 ; ATM
0.925 0.280 11 108332765 stop gained C/G;T snv 4.0E-06; 1.2E-05 3
rs377349459
C11orf65 ; ATM
0.925 0.280 11 108332886 stop gained G/A snv 4.0E-06 5.6E-05 3
rs587782652
ATM ; C11orf65
0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 5
rs786202826
ATM ; C11orf65
0.925 0.280 11 108353805 missense variant A/G;T snv 4.0E-06 3
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
rs1805097
IRS2
0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 1
rs1805076
PPP2R1B
0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03 1
rs2229992
APC
0.827 0.200 5 112827157 stop gained T/C;G snv 0.58 0.47 1
rs1143627
IL1B
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 1