rs879253911, 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 0.925 0.200 17 7675074 stop gained C/A;T snv 0.800 1.000 19 1990 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 17 7675074 stop gained C/A;T snv 0.700 1.000 12 1994 2013
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.925 0.200 17 7675074 stop gained C/A;T snv 0.700 0
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.925 0.200 17 7675074 stop gained C/A;T snv 0.010 1.000 1 2015 2015