rs879253911, TP53

N. diseases: 3
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 7675074 stop gained C/A;T snv 0.800 1.000 8 1990 2018
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.925 0.200 17 7675074 stop gained C/A;T snv 0.700 1.000 12 1994 2013
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
436 0.925 0.200 17 7675074 stop gained C/A;T snv 0.700 0