rs11540654, 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 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.700 1.000 11 1997 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.700 1.000 9 1994 2014
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.010 1.000 1 2014 2014
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.700 0