Source: BEFREE

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: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0025202
Disease: melanoma
melanoma 		0.810 1.000 1 2011 2017
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 1 1995 2017
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.780 0.875 8 1998 2016
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.730 0.750 3 2004 2018
dbSNP: rs587776551
rs587776551
ATM
1.000 0.200 11 108281168 missense variant G/A;T snv 1.6E-05 1.4E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.720 1.000 2 1996 2020
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.720 1.000 2 1999 2014
dbSNP: rs587779815
rs587779815
ATM
1.000 0.200 11 108250804 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.710 1.000 1 1996 2016
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2009 2009
dbSNP: rs587782652
rs587782652
ATM ; C11orf65
0.851 0.320 11 108335105 missense variant T/C snv 3.2E-05 4.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.710 1.000 1 1989 2019
dbSNP: rs770641163
rs770641163
ATM ; C11orf65
0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.710 1.000 1 2003 2019
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 0.786 14 2003 2019
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 0.786 14 2003 2019
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.080 0.875 8 1998 2016
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.070 0.714 7 2005 2018
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 0.667 6 2005 2018
dbSNP: rs189037
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.060 1.000 6 2012 2019
dbSNP: rs189037
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.060 1.000 6 2012 2019
dbSNP: rs189037
rs189037
ATM ; NPAT
0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.060 1.000 6 2012 2019
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 1.000 5 2004 2010
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 1.000 4 2006 2010
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 1.000 4 2002 2018
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 1.000 4 2002 2018
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.030 0.667 3 2004 2009
dbSNP: rs1800058
rs1800058
ATM
0.925 0.080 11 108289623 missense variant C/T snv 1.1E-02 1.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.667 3 2003 2007
dbSNP: rs1800058
rs1800058
ATM
0.925 0.080 11 108289623 missense variant C/T snv 1.1E-02 1.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2003 2007