rs1801516, ATM

N. diseases: 39
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Brain Tumor, Primary
CUI: C0750974
Disease: Brain Tumor, Primary
8 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2008 2008
bilateral breast cancer
CUI: C0281267
Disease: bilateral breast cancer
17 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.020 0.500 2 2005 2006
Childhood Astrocytoma
CUI: C4086152
Disease: Childhood Astrocytoma
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2008 2008
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
59 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2008 2008
Differentiated Thyroid Gland Carcinoma
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
80 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1 2015 2015
Plexiform leiomyoma
CUI: C2242776
Disease: Plexiform leiomyoma
103 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.700 1.000 1 2018 2018
Rectal Carcinoma
CUI: C0007113
Disease: Rectal Carcinoma
112 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2004 2004
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2008 2008
Uterine Fibroids
CUI: C0042133
Disease: Uterine Fibroids
154 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.700 1.000 1 2018 2018
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
204 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.030 1.000 3 2009 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.020 1.000 2 2011 2015
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
245 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2012 2012
cervical cancer
CUI: C4048328
Disease: cervical cancer
268 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2012 2012
Endometriosis
CUI: C0014175
Disease: Endometriosis
274 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2018 2018
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2014 2014
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2009 2009
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2012 2012
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
283 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2012 2012
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2012 2012
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2015 2015
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2012 2012
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
320 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2014 2014
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2009 2009
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2015 2015
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1 2016 2016