Gene: C11orf65 ×
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: rs28904921
rs28904921
ATM ; C11orf65
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.700 1.000 21 1996 2016
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
4 0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05 0.700 1.000 19 1998 2018
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
4 0.882 0.320 11 108331885 inframe deletion TAGAATTTC/- delins 2.8E-05 1.4E-05 0.700 1.000 13 1996 2011
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
3 0.925 0.280 11 108331877 splice acceptor variant A/C;G snv 8.0E-06 0.700 1.000 11 1998 2016
dbSNP: rs587782652
rs587782652
ATM ; C11orf65
5 0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05 0.700 1.000 11 2002 2016
dbSNP: rs564652222
rs564652222
ATM ; C11orf65
5 0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05 0.700 1.000 10 1999 2013
dbSNP: rs587781894
rs587781894
ATM ; C11orf65
4 0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 0.700 1.000 10 1999 2013
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
2 1.000 0.200 11 108335959 stop gained A/C;G;T snv 1.6E-05 0.700 1.000 9 1996 2017
dbSNP: rs587781299
rs587781299
ATM ; C11orf65
3 0.925 0.280 11 108327665 frameshift variant -/A delins 0.700 1.000 8 1998 2016
dbSNP: rs587781905
rs587781905
ATM ; C11orf65
2 1.000 0.200 11 108331442 splice region variant GAGA/- delins 0.700 1.000 8 1996 2011
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
2 1.000 0.200 11 108335957 frameshift variant ATAAG/- del 8.0E-06 2.8E-05 0.700 1.000 8 1998 2017
dbSNP: rs730881295
rs730881295
ATM ; C11orf65
2 1.000 0.200 11 108343372 splice region variant GTGA/- delins 2.1E-05 0.700 1.000 8 1996 2017
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 8 1996 2017
dbSNP: rs786202800
rs786202800
ATM ; C11orf65
2 1.000 0.200 11 108343338 frameshift variant TTTCAGTGCC/- delins 0.700 1.000 8 1998 2017
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
3 0.925 0.280 11 108315911 missense variant G/A snv 2.8E-05 7.0E-06 0.700 1.000 7 1999 2016
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
4 0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05 0.700 1.000 7 1996 2016
dbSNP: rs267606668
rs267606668
ATM ; C11orf65
2 1.000 0.200 11 108332848 missense variant TG/GC mnv 0.700 1.000 7 1998 2013
dbSNP: rs377349459
rs377349459
ATM ; C11orf65
3 0.925 0.280 11 108332886 stop gained G/A snv 4.0E-06 5.6E-05 0.700 1.000 7 1998 2017
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
4 1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05 0.700 1.000 7 1998 2017
dbSNP: rs587782719
rs587782719
ATM ; C11orf65
4 0.882 0.240 11 108335080 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 7 2006 2013
dbSNP: rs769142993
rs769142993
ATM ; C11orf65
7 0.851 0.280 11 108331498 missense variant G/C;T snv 2.4E-05 7.0E-06 0.700 1.000 7 2000 2012
dbSNP: rs774925473
rs774925473
ATM ; C11orf65
3 0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05 0.700 1.000 7 1996 2017
dbSNP: rs864622185
rs864622185
ATM ; C11orf65
2 1.000 0.200 11 108332759 splice region variant T/G snv 4.0E-06 0.700 1.000 7 1996 2015
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
2 1.000 0.200 11 108330233 stop gained C/T snv 4.0E-06 0.700 1.000 6 1996 2016
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
4 0.882 0.280 11 108317374 missense variant C/A snv 4.0E-06 0.700 1.000 6 1999 2015