rs121913344, TP53

N. diseases: 5
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.925 0.200 17 7673704 stop gained G/A;T snv 0.700 1.000 7 1997 2017
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
157 0.925 0.200 17 7673704 stop gained G/A;T snv 0.700 1.000 4 1997 2017
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
216 0.925 0.200 17 7673704 stop gained G/A;T snv 0.700 1.000 1 2014 2014
Head and Neck Neoplasms
CUI: C0018671
Disease: Head and Neck Neoplasms
6 0.925 0.200 17 7673704 stop gained G/A;T snv 0.700 1.000 1 2014 2014
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
436 0.925 0.200 17 7673704 stop gained G/A;T snv 0.700 0