rs144340710, 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 7674259 missense variant T/A;C snv 4.0E-06; 1.8E-04 0.710 1.000 10 1990 2017
High-Grade Squamous Intraepithelial Lesions
CUI: C0333875
Disease: High-Grade Squamous Intraepithelial Lesions
8 1.000 0.120 17 7674259 missense variant T/A;C snv 4.0E-06; 1.8E-04 0.010 1.000 1 2020 2020