rs112431538, TP53

N. diseases: 4
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 7673767 missense variant C/T snv 7.0E-06 0.700 1.000 9 1997 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06 0.700 1.000 8 2000 2013
Colonic Neoplasms
CUI: C0009375
Disease: Colonic Neoplasms
45 1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017