TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs993079710
rs993079710 		1.000 17 7673244 missense variant C/T snv
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs989692988
rs989692988 		17 7676023 splice donor variant A/C snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs9895829
rs9895829 		0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs9895829
rs9895829 		0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs9895829
rs9895829 		0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs9895829
rs9895829 		0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs9895829
rs9895829 		0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs9895829
rs9895829 		0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs9894946
rs9894946 		0.925 0.160 17 7667762 intron variant A/C;G snv
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs9894946
rs9894946 		0.925 0.160 17 7667762 intron variant A/C;G snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.800 1.000 8 2007 2016
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 7 1994 2015
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs985033810
rs985033810 		0.724 0.280 17 7674232 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016