rs1131691026, TP53

N. diseases: 3
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 0.925 0.160 17 7675174 stop gained C/T snv 0.700 1.000 5 2010 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.160 17 7675174 stop gained C/T snv 0.700 1.000 4 2010 2014
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
29 0.925 0.160 17 7675174 stop gained C/T snv 0.010 1.000 1 2018 2018