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: 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: 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: 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: rs1137889
rs1137889
ATM ; C11orf65
1.000 0.200 11 108365344 missense variant A/G snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
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: rs567060474
rs567060474
ATM ; C11orf65
1.000 0.120 11 108326070 missense variant G/A;T snv 1.0E-04
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: rs587781894
rs587781894
ATM ; C11orf65
0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 0
dbSNP: rs587782274
rs587782274
ATM ; C11orf65
1.000 0.120 11 108312465 missense variant A/C snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.700 0
dbSNP: rs587782310
rs587782310
ATM ; C11orf65
1.000 0.080 11 108330234 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs730881315
rs730881315
ATM ; C11orf65
1.000 0.080 11 108329154 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs745775382
rs745775382
ATM ; C11orf65
1.000 0.040 11 108333954 missense variant A/C;G snv 8.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
dbSNP: rs866290641
rs866290641
ATM ; C11orf65
1.000 0.200 11 108316103 missense variant G/A;C snv
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.700 0
dbSNP: rs876658517
rs876658517
ATM ; C11orf65
1.000 0.120 11 108327735 missense variant A/G;T snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		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: rs879254065
rs879254065
ATM ; C11orf65
1.000 0.040 11 108345849 missense variant C/G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 2 1996 2016
dbSNP: rs564652222
rs564652222
ATM ; C11orf65
0.925 0.280 11 108325416 missense variant C/A;T snv 1.4E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.800 1.000 2 2003 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: 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