rs28934576, TP53

N. diseases: 47
Source: BEFREE ×
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
37 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.820 1.000 2 1990 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
1571 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.780 1.000 8 1995 2020
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1186 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
CUI: C0017636
Disease: Glioblastoma
157 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.740 1.000 4 2009 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
2154 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
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
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
155 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.720 1.000 2 2007 2012
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
14 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.710 0.500 1 2005 2016
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1441 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
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
2145 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
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
160 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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
995 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
1000 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
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
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
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
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 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 2017
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
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
Rhabdomyosarcoma
CUI: C0035412
Disease: Rhabdomyosarcoma
17 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