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: rs1169704167
rs1169704167
ATM
0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2006 2006
dbSNP: rs587781823
rs587781823
ATM
0.851 0.280 11 108284370 frameshift variant -/T delins
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2006 2006
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: 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: 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: rs587782652
rs587782652
ATM ; C11orf65
0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05
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: rs772821016
rs772821016
ATM
0.882 0.320 11 108244873 stop gained C/T snv 4.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs189037
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2014 2014
dbSNP: rs611646
rs611646
ATM
0.882 0.120 11 108306370 intron variant T/A;C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2017 2017
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: 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: rs730881394
rs730881394
ATM ; C11orf65
0.925 0.320 11 108310222 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.010 1.000 1 2013 2013
dbSNP: rs17503908
rs17503908
ATM ; C11orf65
1.000 0.080 11 108344670 intron variant T/G snv 6.7E-02
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 2011 2011
dbSNP: rs147187700
rs147187700
ATM ; C11orf65
0.925 0.120 11 108310218 missense variant G/C snv 1.3E-04 1.8E-04
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		0.700 0
dbSNP: rs1169704167
rs1169704167
ATM
0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2006 2006
dbSNP: rs587781823
rs587781823
ATM
0.851 0.280 11 108284370 frameshift variant -/T delins
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2006 2006
dbSNP: rs3092993
rs3092993
ATM ; C11orf65
0.827 0.040 11 108364388 intron variant C/A snv 0.11
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2007 2007
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2014 2014
dbSNP: rs4585
rs4585
ATM ; C11orf65
1.000 0.080 11 108368901 3 prime UTR variant G/T snv 0.53
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		0.010 1.000 1 2017 2017
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 1.000 1 2008 2008
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
1.000 0.200 11 108365359 missense variant C/G;T snv 1.6E-05 2.1E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.810 1.000 29 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 27 1995 2017