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: rs1800056
rs1800056
ATM
0.882 0.120 11 108267276 missense variant T/C snv 8.7E-03 8.5E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2006 2006
dbSNP: rs1800056
rs1800056
ATM
0.882 0.120 11 108267276 missense variant T/C snv 8.7E-03 8.5E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2003 2003
dbSNP: rs1800056
rs1800056
ATM
0.882 0.120 11 108267276 missense variant T/C snv 8.7E-03 8.5E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2006 2006
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2006 2006
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2019 2019
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2009 2009
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 1.000 1 2018 2018
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2012 2012
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2015 2015
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: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2009 2009
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 < 0.001 1 2016 2016
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2015 2015
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 < 0.001 1 2015 2015
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2016 2016
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2009 2009
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2019 2019