rs587782596, TP53

N. diseases: 2
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 0.807 0.200 17 7675071 missense variant G/A;T snv 0.800 1.000 16 1990 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.807 0.200 17 7675071 missense variant G/A;T snv 0.700 1.000 10 1992 2017