rs28934576, TP53

N. diseases: 78
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 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.820 1.000 38 1990 2018
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 14 1992 2016
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.100 0.923 13 1993 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.100 1.000 12 2005 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.780 1.000 9 1995 2020
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 9 2000 2017
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.740 1.000 5 2009 2018
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
98 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.040 1.000 4 2009 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.040 1.000 4 2011 2020
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.040 1.000 4 2005 2018
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
98 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.040 1.000 4 2009 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.740 1.000 4 2017 2019
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.040 1.000 4 2009 2018
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 4 2014 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.740 1.000 4 2011 2020
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.030 0.667 3 1993 2019
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.030 0.667 3 1993 2019
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 3 1998 2016
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.030 0.667 3 1993 2019
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.030 1.000 3 2007 2017
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
46 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.710 0.500 2 2005 2016
Adult Rhabdomyosarcoma
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
12 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.020 1.000 2 1997 2011
Anaplastic thyroid carcinoma
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
16 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.720 1.000 2 2005 2009
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
151 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.020 1.000 2 2007 2012
Childhood Rhabdomyosarcoma
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
12 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.020 1.000 2 1997 2011