Source: CLINVAR

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: rs587782292
rs587782292
ATM ; C11orf65
1.000 0.200 11 108365359 missense variant C/G;T snv 1.6E-05 2.1E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.810 1.000 12 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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 17 1996 2016
dbSNP: rs564652222
rs564652222
ATM ; C11orf65
0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 9 2003 2014
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
1.000 0.200 11 108345818 missense variant C/T snv 3.2E-05 1.4E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 8 1995 2017
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
0.882 0.280 11 108317374 missense variant C/A snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 6 1995 2017
dbSNP: rs121434216
rs121434216
ATM ; C11orf65
0.925 0.200 11 108345804 missense variant T/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 4 1995 2017
dbSNP: rs876659365
rs876659365
ATM ; C11orf65
1.000 0.200 11 108330314 missense variant T/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 3 1995 2017
dbSNP: rs587782202
rs587782202
ATM ; C11orf65
1.000 0.200 11 108345870 missense variant G/A;C snv 2.0E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 1 1995 2017
dbSNP: rs121434221
rs121434221
ATM ; C11orf65
1.000 0.120 11 108329199 missense variant A/G snv
CUI: C0334634
Disease: Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 		0.800 0
dbSNP: rs587781302
rs587781302
ATM ; C11orf65
1.000 0.200 11 108315863 missense variant A/G;T snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 0 1995 2017
dbSNP: rs786202826
rs786202826
ATM ; C11orf65
0.925 0.280 11 108353805 missense variant A/G;T snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 0 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.780 0.875 0 1998 2016
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.720 1.000 9 1999 2014
dbSNP: rs587782652
rs587782652
ATM ; C11orf65
0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.710 1.000 10 1989 2019
dbSNP: rs770641163
rs770641163
ATM ; C11orf65
0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.710 1.000 8 2003 2019
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 0 2009 2009
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: 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: 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: 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