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: 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: 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: 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: 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: 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: rs1060501525
rs1060501525
ATM ; C11orf65
1.000 0.200 11 108329222 frameshift variant AA/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1060501536
rs1060501536
ATM ; C11orf65
1.000 0.200 11 108325395 stop gained C/T snv 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1060501536
rs1060501536
ATM ; C11orf65
1.000 0.200 11 108325395 stop gained C/T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060501543
rs1060501543
ATM ; C11orf65
1.000 0.200 11 108325465 frameshift variant AA/-;AAA delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1060501547
rs1060501547
ATM ; C11orf65
1.000 0.200 11 108331946 frameshift variant AACA/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1060501548
rs1060501548
ATM ; C11orf65
1.000 0.200 11 108315895 frameshift variant T/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1060501548
rs1060501548
ATM ; C11orf65
1.000 0.200 11 108315895 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060501570
rs1060501570
ATM ; C11orf65
1.000 0.200 11 108317371 splice acceptor variant A/T snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1060501657
rs1060501657
ATM ; C11orf65
1.000 0.200 11 108310266 frameshift variant AT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060501700
rs1060501700
ATM ; C11orf65
1.000 0.200 11 108347277 splice acceptor variant A/C;G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1060501707
rs1060501707
ATM ; C11orf65
1.000 0.200 11 108321343 frameshift variant GT/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1060501712
rs1060501712
ATM ; C11orf65
1.000 0.200 11 108317446 stop gained G/A snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1060501713
rs1060501713
ATM ; C11orf65
1.000 0.200 11 108343373 splice donor variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1064793046
rs1064793046
ATM ; C11orf65
1.000 0.200 11 108343323 frameshift variant TACA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1064793046
rs1064793046
ATM ; C11orf65
1.000 0.200 11 108343323 frameshift variant TACA/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1064794143
rs1064794143
ATM ; C11orf65
1.000 0.200 11 108317485 stop gained G/A;C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1064795006
rs1064795006
ATM ; C11orf65
1.000 0.200 11 108320060 splice donor variant T/C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1064795467
rs1064795467
ATM ; C11orf65
1.000 0.200 11 108317412 missense variant T/C;G snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1064795675
rs1064795675
ATM ; C11orf65
1.000 0.200 11 108365149 stop gained GGCCGGAAGATG/TGT delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0