rs863224451, TP53

N. diseases: 20
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 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.800 1.000 14 1990 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 9 1993 2011
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
138 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Adrenocortical carcinoma
CUI: C0206686
Disease: Adrenocortical carcinoma
46 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
291 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
272 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Serous cystadenocarcinoma ovary
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
99 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
158 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.700 0
EVEN-PLUS SYNDROME
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
5 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019