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: rs1018140779
rs1018140779
ATM ; C11orf65
1.000 0.200 11 108329097 stop gained C/G;T snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 2013 2013
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: rs1057516282
rs1057516282
ATM ; C11orf65
1.000 0.200 11 108365400 frameshift variant -/G delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2003 2015
dbSNP: rs1057516282
rs1057516282
ATM ; C11orf65
1.000 0.200 11 108365400 frameshift variant -/G delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 2003 2003
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: rs1057516537
rs1057516537
ATM ; C11orf65
1.000 0.200 11 108365081 splice acceptor variant G/T snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 2013 2013
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: rs1057517025
rs1057517025
ATM ; C11orf65
1.000 0.200 11 108332014 frameshift variant A/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 2016 2016
dbSNP: rs1057517120
rs1057517120
ATM ; C11orf65
1.000 0.200 11 108317522 splice donor variant G/A snv 7.3E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 3 1999 2014
dbSNP: rs1057517302
rs1057517302
ATM ; C11orf65
1.000 0.200 11 108319953 splice acceptor variant G/A snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 2 2013 2014
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: rs1060501630
rs1060501630
ATM ; C11orf65
1.000 0.200 11 108343274 frameshift variant TC/A delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 2 2000 2009
dbSNP: rs1060501650
rs1060501650
ATM ; C11orf65
1.000 0.200 11 108365111 stop gained G/A snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 2000 2000
dbSNP: rs1060501650
rs1060501650
ATM ; C11orf65
1.000 0.200 11 108365111 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2000 2000
dbSNP: rs1060501657
rs1060501657
ATM ; C11orf65
1.000 0.200 11 108310266 frameshift variant AT/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 2017 2017
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