rs375338359, 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 0.882 0.200 17 7670684 missense variant C/G;T snv 8.0E-06 0.720 1.000 9 1998 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 17 7670684 missense variant C/G;T snv 8.0E-06 0.700 1.000 5 1994 2015
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.882 0.200 17 7670684 missense variant C/G;T snv 8.0E-06 0.700 0
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
46 0.882 0.200 17 7670684 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2009 2009