rs587781664, TP53

N. diseases: 2
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 1.000 0.120 17 7669692 splice acceptor variant T/C snv 0.700 1.000 3 2010 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.120 17 7669692 splice acceptor variant T/C snv 0.700 1.000 2 2011 2016