rs28934578, TP53

N. diseases: 47
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.
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.820 1.000 28 1990 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.780 0.909 11 2000 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.750 1.000 5 2011 2018
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.710 1 2017 2017
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.710 1.000 1 2005 2005
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 1.000 16 1994 2016
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 1.000 14 1997 2014
ADRENOCORTICAL CARCINOMA, HEREDITARY
7 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
7 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
Choroid Plexus Papilloma
CUI: C0205770
Disease: Choroid Plexus Papilloma
17 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
GLIOMA SUSCEPTIBILITY 1
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
14 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
214 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
320 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.060 1.000 6 2009 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.060 1.000 6 2013 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.060 1.000 6 2013 2019
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.040 1.000 4 2009 2018
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.030 1.000 3 2011 2017
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.030 1.000 3 2011 2017
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.030 1.000 3 2011 2017
melanoma
CUI: C0025202
Disease: melanoma
515 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.020 1.000 2 2010 2011
Adenocarcinoma Of Esophagus
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
81 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2019 2019