Gene: C11orf65 ×
Source: INFERRED ×
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: 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: 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: 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: 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: 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: 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
dbSNP: rs587781363
rs587781363
ATM ; C11orf65
2 1.000 0.200 11 108345797 stop gained C/T snv 0.700 1.000 6 1997 2015
dbSNP: rs748634900
rs748634900
ATM ; C11orf65
2 1.000 0.200 11 108343246 missense variant G/A snv 8.0E-06 0.700 1.000 6 1999 2015
dbSNP: rs775899653
rs775899653
ATM ; C11orf65
1 11 108343231 frameshift variant TCTC/-;TC delins 0.700 1.000 6 1996 2009
dbSNP: rs532480170
rs532480170
ATM ; C11orf65
5 0.882 0.280 11 108316015 stop gained C/A;T snv 1.2E-05; 4.0E-06 0.700 1.000 5 1996 2011
dbSNP: rs587782847
rs587782847
ATM ; C11orf65
1 11 108365382 frameshift variant AACTGAAAGGA/- delins 0.700 1.000 5 2003 2017
dbSNP: rs876660743
rs876660743
ATM ; C11orf65
1 11 108333941 inframe deletion TGT/- delins 0.700 1.000 5 1999 2011
dbSNP: rs138941496
rs138941496
ATM ; C11orf65
3 0.925 0.280 11 108332765 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 4 1996 2004
dbSNP: rs1450394308
rs1450394308
ATM ; C11orf65
2 1.000 0.200 11 108332851 frameshift variant TATTA/- delins 4.0E-06 0.700 1.000 4 1996 2013
dbSNP: rs587782114
rs587782114
ATM ; C11orf65
1 11 108317500 stop gained G/A snv 0.700 1.000 4 2008 2015
dbSNP: rs758814126
rs758814126
ATM ; C11orf65
2 1.000 0.200 11 108354838 frameshift variant GAGAAACTCTC/- del 8.0E-06 0.700 1.000 4 1998 2008
dbSNP: rs778031266
rs778031266
ATM ; C11orf65
4 0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 0.700 1.000 4 1998 2016
dbSNP: rs786203030
rs786203030
ATM ; C11orf65
2 1.000 0.200 11 108354855 frameshift variant CT/- delins 0.700 1.000 4 1996 2009
dbSNP: rs876660134
rs876660134
ATM ; C11orf65
2 1.000 0.200 11 108312467 frameshift variant TAAAG/- delins 0.700 1.000 4 1996 2006