rs730882029, 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 7670685 stop gained G/A snv 0.700 1.000 11 2006 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 17 7670685 stop gained G/A snv 0.700 1.000 7 2007 2016
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.882 0.200 17 7670685 stop gained G/A snv 0.700 0
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
46 0.882 0.200 17 7670685 stop gained G/A snv 0.010 1.000 1 2009 2009