rs397514495, TP53

N. diseases: 4
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 0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05 0.800 1.000 26 1990 2016
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05 0.700 1.000 14 1992 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05 0.700 1.000 12 1992 2017
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05 0.700 0