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: rs1060501684
rs1060501684
ATM
1.000 0.200 11 108247052 frameshift variant A/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1060501687
rs1060501687
ATM
0.925 0.320 11 108272782 stop gained G/T snv 4.0E-06 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		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: rs1060501701
rs1060501701
ATM
1.000 0.200 11 108250795 frameshift variant C/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1060501702
rs1060501702
ATM
1.000 0.200 11 108268545 frameshift variant G/- delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1060501703
rs1060501703
ATM
1.000 0.200 11 108271062 splice acceptor variant A/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1060501706
rs1060501706
ATM
1.000 0.200 11 108297286 splice acceptor variant G/T 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: rs1060501711
rs1060501711
ATM
1.000 0.200 11 108279526 stop gained T/A snv
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: rs1064792938
rs1064792938
ATM
1.000 0.200 11 108289695 stop gained CTGT/TAAAATAAA delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1064792940
rs1064792940
ATM
1.000 0.200 11 108256200 splice acceptor variant GTGGTTTACTTTAAGATTA/- del
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1064792998
rs1064792998
ATM
1.000 0.200 11 108249084 frameshift variant -/T;TTT delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		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: rs1064793390
rs1064793390
ATM
1.000 0.200 11 108293359 frameshift variant A/- 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
dbSNP: rs11212587
rs11212587
ATM ; C11orf65
1.000 0.200 11 108315883 missense variant G/A snv 1.4E-03 1.2E-03
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs112805604
rs112805604
ATM
1.000 0.200 11 108227889 splice donor variant G/A snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1131691149
rs1131691149
ATM ; C11orf65
1.000 0.200 11 108365110 stop gained G/A snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1131691162
rs1131691162
ATM ; C11orf65
1.000 0.200 11 108327701 stop gained G/A snv 1.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1131691164
rs1131691164
ATM
0.925 0.280 11 108292689 stop gained C/T snv 8.0E-06 4.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs1131691166
rs1131691166
ATM
1.000 0.200 11 108251060 frameshift variant -/AGAC delins
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0