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: rs1025339570
rs1025339570
ATM
11 108249045 stop gained G/A;T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1049900772
rs1049900772
ATM
11 108279546 stop gained A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1057516229
rs1057516229
ATM ; C11orf65
1.000 0.200 11 108347367 splice donor variant T/C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516235
rs1057516235
ATM ; C11orf65
1.000 0.200 11 108327760 splice donor variant T/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516238
rs1057516238
ATM
1.000 0.200 11 108287599 splice acceptor variant G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
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: rs1057516301
rs1057516301
ATM
1.000 0.200 11 108279519 frameshift variant -/C delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516358
rs1057516358
ATM
1.000 0.200 11 108299838 stop gained GA/AC mnv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516393
rs1057516393
ATM
1.000 0.200 11 108256251 frameshift variant -/T delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516446
rs1057516446
ATM
1.000 0.200 11 108279555 frameshift variant AACA/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516525
rs1057516525
ATM ; C11orf65
1.000 0.200 11 108315913 splice donor variant T/C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516540
rs1057516540
ATM
1.000 0.200 11 108302846 splice acceptor variant CTAGTTTT/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516553
rs1057516553
ATM
1.000 0.200 11 108258984 splice acceptor variant A/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516590
rs1057516590
ATM
1.000 0.200 11 108271396 frameshift variant G/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516599
rs1057516599
ATM ; C11orf65
1.000 0.200 11 108332853 frameshift variant A/- del 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516683
rs1057516683
ATM
1.000 0.200 11 108244042 frameshift variant A/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516721
rs1057516721
ATM
1.000 0.200 11 108251970 frameshift variant TT/- del
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: rs1057516876
rs1057516876
ATM
1.000 0.200 11 108251883 frameshift variant C/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516905
rs1057516905
ATM ; C11orf65
1.000 0.200 11 108321327 frameshift variant -/GC delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516944
rs1057516944
ATM
1.000 0.200 11 108267310 frameshift variant CA/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516944
rs1057516944
ATM
1.000 0.200 11 108267310 frameshift variant CA/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1057516980
rs1057516980
ATM
1.000 0.200 11 108258985 frameshift variant -/AA delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057516981
rs1057516981
ATM
1.000 0.200 11 108281133 stop gained A/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1057517097
rs1057517097
ATM
1.000 0.200 11 108272796 frameshift variant -/T delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0