rs587782144, TP53

N. diseases: 8
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 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.810 1.000 37 1990 2017
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 9 2003 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 3 2015 2017
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014