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: rs1000256867
rs1000256867 		17 7673550 missense variant T/A;G snv 4.0E-06
CUI: C0333875
Disease: High-Grade Squamous Intraepithelial Lesions
High-Grade Squamous Intraepithelial Lesions 		Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2020 2020
dbSNP: rs1011445550
rs1011445550 		0.925 0.080 17 7676391 missense variant G/C snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1011445550
rs1011445550 		0.925 0.080 17 7676391 missense variant G/C snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1019340046
rs1019340046 		0.882 0.080 17 7674225 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 1996 2009
dbSNP: rs1019340046
rs1019340046 		0.882 0.080 17 7674225 missense variant C/T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 1993 1993
dbSNP: rs1019340046
rs1019340046 		0.882 0.080 17 7674225 missense variant C/T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 1993 1993
dbSNP: rs1019340046
rs1019340046 		0.882 0.080 17 7674225 missense variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 < 0.001 1 1993 1993
dbSNP: rs1019340046
rs1019340046 		0.882 0.080 17 7674225 missense variant C/T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 1993 1993
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.833 48 2003 2020
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.833 48 2003 2020
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.100 0.933 45 2002 2019
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.100 0.921 38 2005 2019
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.100 0.971 34 2003 2018
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.727 22 2006 2019
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.850 20 2000 2018
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.850 20 2000 2018
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.850 20 2000 2018
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.867 15 2005 2017
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 0.867 15 2006 2018
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.100 0.929 14 2002 2018
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.100 0.923 13 2002 2018
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.100 0.923 13 2002 2018
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.100 0.833 12 2006 2019
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.100 0.909 11 2009 2018
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.900 10 2009 2015