rs587780075, 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 7673820 missense variant C/G;T snv 1.2E-05 0.700 1.000 18 1990 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.120 17 7673820 missense variant C/G;T snv 1.2E-05 0.700 1.000 4 1992 2012