Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555114558
rs1555114558
ATM ; C11orf65
1.000 0.200 11 108317377 missense variant T/C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 22 1995 2017
dbSNP: rs876659735
rs876659735
ATM ; C11orf65
1.000 0.200 11 108335063 missense variant T/G snv 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 22 1995 2017
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
1.000 0.200 11 108345795 missense variant G/A;C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 22 1995 2017
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 1996 2016
dbSNP: rs587778065
rs587778065
ATM
1.000 0.200 11 108257583 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 20 1995 2017
dbSNP: rs587779844
rs587779844
ATM
1.000 0.200 11 108301698 missense variant C/G;T snv 1.6E-05 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 20 1995 2017
dbSNP: rs777301065
rs777301065
ATM
1.000 0.200 11 108251938 missense variant T/C snv 8.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 20 1995 2017
dbSNP: rs780905851
rs780905851
ATM ; C11orf65
1.000 0.200 11 108345889 missense variant T/A;C;G snv 8.0E-06; 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 20 1995 2017
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 19 1998 2018
dbSNP: rs587779834
rs587779834
ATM
0.925 0.320 11 108284281 frameshift variant G/- delins 4.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 18 1996 2017
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
1.000 0.200 11 108330233 stop gained C/T snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 14 1996 2016
dbSNP: rs587781894
rs587781894
ATM ; C11orf65
0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 14 1998 2013
dbSNP: rs17174393
rs17174393
ATM ; C11orf65
0.882 0.280 11 108353881 splice donor variant G/A;C;T snv 1.6E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 13 1996 2014
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
1.000 0.200 11 108335959 stop gained A/C;G;T snv 1.6E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 13 1996 2016
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
0.882 0.320 11 108331885 inframe deletion TAGAATTTC/- delins 2.8E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 1996 2011
dbSNP: rs1137887
rs1137887
ATM
0.925 0.280 11 108256340 splice region variant G/A snv 4.4E-05 2.8E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 12 1998 2016
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
0.925 0.280 11 108315911 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 12 1999 2016
dbSNP: rs587776547
rs587776547
ATM ; C11orf65
0.882 0.320 11 108331885 inframe deletion TAGAATTTC/- delins 2.8E-05 1.4E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 12 1995 2012
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
1.000 0.200 11 108365415 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 12 1996 2016
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
1.000 0.200 11 108335957 frameshift variant ATAAG/- del 8.0E-06 2.8E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 12 1998 2016
dbSNP: rs730881386
rs730881386
ATM ; C11orf65
1.000 0.200 11 108365324 splice acceptor variant G/A;C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 12 1996 2017
dbSNP: rs1450394308
rs1450394308
ATM ; C11orf65
1.000 0.200 11 108332851 frameshift variant TATTA/- delins 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 11 1996 2015
dbSNP: rs587779817
rs587779817
ATM
0.925 0.280 11 108251026 frameshift variant GA/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 11 1996 2016
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
0.925 0.280 11 108331877 splice acceptor variant A/C;G snv 8.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 11 1998 2016
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
0.925 0.280 11 108331877 splice acceptor variant A/C;G snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 11 1998 2016