rs121912652, 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 0.200 17 7674191 stop gained C/A;T snv 0.800 1.000 14 1990 2014
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.882 0.200 17 7674191 stop gained C/A;T snv 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 17 7674191 stop gained C/A;T snv 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.882 0.200 17 7674191 stop gained C/A;T snv 0.700 0