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: rs1003623
rs1003623
ATM
0.925 0.080 11 108281855 intron variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2007 2007
dbSNP: rs1003623
rs1003623
ATM
0.925 0.080 11 108281855 intron variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs11212592
rs11212592
ATM ; C11orf65
0.882 0.080 11 108348120 intron variant A/G snv 0.16
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2018 2018
dbSNP: rs11212592
rs11212592
ATM ; C11orf65
0.882 0.080 11 108348120 intron variant A/G snv 0.16
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2018 2018
dbSNP: rs11212592
rs11212592
ATM ; C11orf65
0.882 0.080 11 108348120 intron variant A/G snv 0.16
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2018 2018
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: rs1169704167
rs1169704167
ATM
0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2006 2006
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: rs1183646267
rs1183646267
ATM
0.925 0.040 11 108281026 missense variant A/G snv
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1183646267
rs1183646267
ATM
0.925 0.040 11 108281026 missense variant A/G snv
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs1281685502
rs1281685502
ATM
1.000 0.080 11 108292629 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2004 2004
dbSNP: rs1364898025
rs1364898025
ATM
0.925 0.080 11 108227656 missense variant G/A snv
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 1.000 1 1998 1998
dbSNP: rs1364898025
rs1364898025
ATM
0.925 0.080 11 108227656 missense variant G/A snv
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 1.000 1 1998 1998
dbSNP: rs1364898025
rs1364898025
ATM
0.925 0.080 11 108227656 missense variant G/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 1998 1998
dbSNP: rs139379666
rs139379666
ATM ; C11orf65
0.925 0.080 11 108365152 missense variant C/T snv 7.6E-05 5.6E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs139379666
rs139379666
ATM ; C11orf65
0.925 0.080 11 108365152 missense variant C/T snv 7.6E-05 5.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019
dbSNP: rs170548
rs170548
ATM ; C11orf65
1.000 0.080 11 108364109 intron variant A/C;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2007 2007
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: rs17503908
rs17503908
ATM ; C11orf65
1.000 0.080 11 108344670 intron variant T/G snv 6.7E-02
CUI: C1853195
Disease: Prostate Cancer, Hereditary, 7
Prostate Cancer, Hereditary, 7 		0.010 1.000 1 2014 2014
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2008 2008
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.010 1.000 1 2004 2004
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2008 2008
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: rs1800056
rs1800056
ATM
0.882 0.120 11 108267276 missense variant T/C snv 8.7E-03 8.5E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2006 2006