rs121913344, TP53

N. diseases: 5
Disease: Li-Fraumeni Syndrome ×
Source: CLINVAR ×
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
157 0.925 0.200 17 7673704 stop gained G/A;T snv 0.700 1.000 4 1997 2017