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: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		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: 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: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary 		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: 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: 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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		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: C4086152
Disease: Childhood Astrocytoma
Childhood 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: 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: C1306460
Disease: Primary malignant neoplasm of lung
Primary 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: C0025149
Disease: Medulloblastoma
Medulloblastoma 		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: 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: 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: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2009 2009