rs121912664, TP53

N. diseases: 44
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 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.900 0.977 44 1990 2020
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 19 2001 2017
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 1 2013 2013
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 12 2000 2016
Adrenocortical Carcinoma, Pediatric
CUI: C1859973
Disease: Adrenocortical Carcinoma, Pediatric
2 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 0
Squamous cell carcinoma of the head and neck
348 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.700 0
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.100 0.941 17 2005 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.100 0.875 16 2001 2020
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.100 0.933 15 2005 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.080 1.000 8 2007 2016
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
46 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.070 1.000 7 2003 2016
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.070 1.000 7 2001 2016
Aplasia Cutis Congenita
CUI: C0282160
Disease: Aplasia Cutis Congenita
14 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.070 1.000 7 2001 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.070 1.000 7 2008 2016
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.050 1.000 5 2005 2018
Li-Fraumeni-Like Syndrome
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
8 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.050 1.000 5 2011 2019
Tumors of Adrenal Cortex
CUI: C0001618
Disease: Tumors of Adrenal Cortex
5 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.050 1.000 5 2005 2018
Choroid Plexus Carcinoma
CUI: C0431109
Disease: Choroid Plexus Carcinoma
11 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.040 1.000 4 2011 2015
Hereditary Breast and Ovarian Cancer Syndrome
2117 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.020 0.500 2 2014 2019
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2001 2011
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2009 2011
Adult Ependymoma
CUI: C0278874
Disease: Adult Ependymoma
3 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2020 2020
Bone Sarcoma
CUI: C1704327
Disease: Bone Sarcoma
4 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2009 2009
Breast adenocarcinoma
CUI: C0858252
Disease: Breast adenocarcinoma
7 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2007 2007