Source: UNIPROT

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: rs587781511
rs587781511
ATM
1.000 0.200 11 108247029 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 22 1995 2017
dbSNP: rs786203054
rs786203054
ATM
1.000 0.200 11 108271074 missense variant T/A;G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 22 1995 2017
dbSNP: rs587778065
rs587778065
ATM
1.000 0.200 11 108257583 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 20 1995 2017
dbSNP: rs587779844
rs587779844
ATM
1.000 0.200 11 108301698 missense variant C/G;T snv 1.6E-05 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 20 1995 2017
dbSNP: rs777301065
rs777301065
ATM
1.000 0.200 11 108251938 missense variant T/C snv 8.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 20 1995 2017
dbSNP: rs1060501688
rs1060501688
ATM
1.000 0.200 11 108307960 missense variant T/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 2 2010 2014
dbSNP: rs145053092
rs145053092
ATM
1.000 0.200 11 108244795 missense variant A/G snv 8.4E-05 9.1E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 2 2010 2014
dbSNP: rs568461905
rs568461905
ATM
1.000 0.200 11 108272591 missense variant T/C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 2 2010 2014
dbSNP: rs730881391
rs730881391
ATM
1.000 0.200 11 108289759 missense variant T/C snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 2 1999 2014
dbSNP: rs747727055
rs747727055
ATM
1.000 0.200 11 108245000 missense variant C/T snv 8.1E-06 1.4E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 2 2000 2014
dbSNP: rs138398778
rs138398778
ATM
1.000 0.080 11 108247071 missense variant C/A;T snv 8.0E-06; 8.8E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs202160435
rs202160435
ATM
0.925 0.240 11 108247072 missense variant G/A snv 8.0E-05 6.3E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs369203092
rs369203092
ATM
1.000 0.120 11 108247117 missense variant T/C snv 8.0E-06
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 0
dbSNP: rs371713984
rs371713984
ATM
1.000 0.120 11 108247110 missense variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 0
dbSNP: rs587779858
rs587779858
ATM
1.000 0.080 11 108227692 missense variant G/A snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs879254046
rs879254046
ATM
0.925 0.240 11 108267246 stop gained G/A;C;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
dbSNP: rs121434218
rs121434218
ATM ; C11orf65
0.925 0.200 11 108333925 missense variant T/C;G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 22 1995 2017
dbSNP: rs1555114558
rs1555114558
ATM ; C11orf65
1.000 0.200 11 108317377 missense variant T/C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 22 1995 2017
dbSNP: rs587781302
rs587781302
ATM ; C11orf65
1.000 0.200 11 108315863 missense variant A/G;T snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 22 1995 2017
dbSNP: rs587782202
rs587782202
ATM ; C11orf65
1.000 0.200 11 108345870 missense variant G/A;C snv 2.0E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 22 1995 2017
dbSNP: rs786202826
rs786202826
ATM ; C11orf65
0.925 0.280 11 108353805 missense variant A/G;T snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 22 1995 2017
dbSNP: rs876659735
rs876659735
ATM ; C11orf65
1.000 0.200 11 108335063 missense variant T/G snv 7.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 22 1995 2017
dbSNP: rs876660927
rs876660927
ATM ; C11orf65
1.000 0.200 11 108345795 missense variant G/A;C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 1.000 22 1995 2017
dbSNP: rs121434216
rs121434216
ATM ; C11orf65
0.925 0.200 11 108345804 missense variant T/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 20 1995 2017
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
0.882 0.280 11 108317374 missense variant C/A snv 4.0E-06
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 20 1995 2017