Source: CLINVAR

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: rs1057516620
rs1057516620
ATM
1.000 0.200 11 108256225 stop gained C/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 2011 2011
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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 2008 2008
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: 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: rs1057517097
rs1057517097
ATM
1.000 0.200 11 108272796 frameshift variant -/T delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057517100
rs1057517100
ATM
1.000 0.200 11 108284467 frameshift variant A/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057517101
rs1057517101
ATM
1.000 0.200 11 108302881 frameshift variant A/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
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: rs1057517129
rs1057517129
ATM
1.000 0.200 11 108282733 frameshift variant TT/-;T delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 3 1999 2000
dbSNP: rs1057517140
rs1057517140
ATM
1.000 0.200 11 108287622 frameshift variant TACCAGAGATT/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057517140
rs1057517140
ATM
1.000 0.200 11 108287622 frameshift variant TACCAGAGATT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1057517213
rs1057517213
ATM
1.000 0.200 11 108284225 splice acceptor variant A/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057517226
rs1057517226
ATM
1.000 0.200 11 108282709 splice acceptor variant G/C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057517226
rs1057517226
ATM
1.000 0.200 11 108282709 splice acceptor variant G/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1057517248
rs1057517248
ATM
1.000 0.200 11 108256215 frameshift variant A/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1057517253
rs1057517253
ATM
1.000 0.200 11 108271102 stop gained C/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 1 2012 2012
dbSNP: rs1057517300
rs1057517300
ATM
1.000 0.200 11 108252866 frameshift variant A/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0