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: rs1555073243
rs1555073243
ATM
11 108253892 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555082160
rs1555082160
ATM
1.000 0.200 11 108267227 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1555105588
rs1555105588
ATM
1.000 0.200 11 108301651 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1555106438
rs1555106438
ATM
11 108302931 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555106452
rs1555106452
ATM
1.000 0.200 11 108302937 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555110514
rs1555110514
ATM ; C11orf65
1.000 0.200 11 108310289 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1555116533
rs1555116533
ATM ; C11orf65
1.000 0.200 11 108320047 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1555116533
rs1555116533
ATM ; C11orf65
1.000 0.200 11 108320047 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555119247
rs1555119247
ATM ; C11orf65
11 108325484 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555127231
rs1555127231
ATM ; C11orf65
1.000 0.200 11 108335063 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1565346604
rs1565346604
ATM
11 108229183 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1565346867
rs1565346867
ATM
1.000 0.200 11 108229219 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1565382593
rs1565382593
ATM
1.000 0.200 11 108250832 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs587778077
rs587778077
ATM
1.000 0.200 11 108304829 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs587781299
rs587781299
ATM ; C11orf65
0.925 0.280 11 108327665 frameshift variant -/A delins
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.700 0
dbSNP: rs773570504
rs773570504
ATM ; C11orf65
1.000 0.200 11 108326152 frameshift variant -/A delins 1.6E-05 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs797045030
rs797045030
ATM ; C11orf65
1.000 0.200 11 108315864 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs864622164
rs864622164
ATM
1.000 0.200 11 108293436 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs864622164
rs864622164
ATM
1.000 0.200 11 108293436 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs876658899
rs876658899
ATM
1.000 0.200 11 108281097 frameshift variant -/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs876658899
rs876658899
ATM
1.000 0.200 11 108281097 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs876659010
rs876659010
ATM ; C11orf65
11 108345833 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs878853518
rs878853518
ATM
1.000 0.200 11 108301672 frameshift variant -/A delins 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs786203272
rs786203272
ATM ; C11orf65
11 108345797 frameshift variant -/AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1998 1998
dbSNP: rs1057516980
rs1057516980
ATM
1.000 0.200 11 108258985 frameshift variant -/AA delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0