rs879253942, TP53

N. diseases: 28
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 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.677 0.400 17 7673826 missense variant A/G snv 0.700 1.000 6 1997 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.677 0.400 17 7673826 missense variant A/G snv 0.700 1.000 7 1996 2011
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.677 0.400 17 7673826 missense variant A/G snv 0.800 1.000 25 1990 2017