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: 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: rs587781299
rs587781299
ATM ; C11orf65
0.925 0.280 11 108327665 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1998 2016
dbSNP: rs587781299
rs587781299
ATM ; C11orf65
0.925 0.280 11 108327665 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 6 1998 2016
dbSNP: rs587779822
rs587779822
ATM
1.000 0.200 11 108267204 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 5 1998 2016
dbSNP: rs587779822
rs587779822
ATM
1.000 0.200 11 108267204 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1998 2012
dbSNP: rs876658502
rs876658502
ATM
1.000 0.200 11 108272537 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 5 1998 2018
dbSNP: rs876660235
rs876660235
ATM ; C11orf65
1.000 0.200 11 108365356 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 5 2003 2012
dbSNP: rs773570504
rs773570504
ATM ; C11orf65
1.000 0.200 11 108326152 frameshift variant -/A delins 1.6E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2002 2012
dbSNP: rs876658502
rs876658502
ATM
1.000 0.200 11 108272537 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1998 2005
dbSNP: rs1478081526
rs1478081526
ATM
1.000 0.200 11 108256281 stop gained -/A delins 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 3 2003 2019
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
1.000 0.200 11 108365415 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2000 2011
dbSNP: rs797045030
rs797045030
ATM ; C11orf65
1.000 0.200 11 108315864 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 3 2013 2016
dbSNP: rs1057516541
rs1057516541
ATM
1.000 0.200 11 108284359 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2011 2011
dbSNP: rs1057516541
rs1057516541
ATM
1.000 0.200 11 108284359 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 2011 2011
dbSNP: rs1555097604
rs1555097604
ATM
1.000 0.200 11 108289708 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 2006 2006
dbSNP: rs1555106452
rs1555106452
ATM
1.000 0.200 11 108302937 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 2000 2000
dbSNP: rs876660235
rs876660235
ATM ; C11orf65
1.000 0.200 11 108365356 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2011 2011
dbSNP: rs876660411
rs876660411
ATM ; C11orf65
11 108347316 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2012 2012
dbSNP: rs1057516250
rs1057516250
ATM
1.000 0.200 11 108271323 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516760
rs1057516760
ATM
1.000 0.200 11 108302989 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1131691163
rs1131691163
ATM
11 108271366 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1427164968
rs1427164968
ATM
11 108235776 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555054197
rs1555054197
ATM
1.000 0.200 11 108227854 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1555069617
rs1555069617
ATM
11 108248975 stop gained -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555070739
rs1555070739
ATM
11 108250778 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0