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: rs28934575
rs28934575 		0.641 0.400 17 7674230 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 0.810 1.000 52 1990 2017
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.833 42 2003 2018
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.833 42 2003 2018
dbSNP: rs878854066
rs878854066 		0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.833 42 2003 2018
dbSNP: rs878854066
rs878854066 		0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.833 42 2003 2018
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.100 0.923 39 2002 2019
dbSNP: rs878854066
rs878854066 		0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.100 0.923 39 2002 2019
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.100 0.909 33 2005 2019
dbSNP: rs878854066
rs878854066 		0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.100 0.909 33 2005 2019
dbSNP: rs28934575
rs28934575 		0.641 0.400 17 7674230 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 30 1990 2017
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.100 0.966 29 2003 2018
dbSNP: rs878854066
rs878854066 		0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.100 0.966 29 2003 2018
dbSNP: rs587782596
rs587782596 		0.807 0.200 17 7675071 missense variant G/A;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 27 1990 2017
dbSNP: rs879253942
rs879253942 		0.677 0.400 17 7673826 missense variant A/G 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 25 1990 2017
dbSNP: rs28934571
rs28934571 		0.645 0.360 17 7674216 missense variant C/A;G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.800 1.000 22 1994 2020
dbSNP: rs587782529
rs587782529 		0.851 0.200 17 7670700 missense variant G/A;C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.810 1.000 22 1990 2014
dbSNP: rs121912662
rs121912662 		0.925 0.120 17 7670678 missense variant A/G 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 21 1990 2017
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.750 20 2006 2018
dbSNP: rs587781288
rs587781288 		0.732 0.440 17 7675190 missense variant C/A;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 20 1990 2014
dbSNP: rs786201838
rs786201838 		0.683 0.440 17 7674953 missense variant T/A;C;G 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 20 1990 2017
dbSNP: rs876660754
rs876660754 		0.701 0.360 17 7675095 missense variant C/A;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 20 1990 2018
dbSNP: rs878854066
rs878854066 		0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.750 20 2006 2018
dbSNP: rs121912663
rs121912663 		0.925 0.120 17 7673745 missense variant T/A;C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.710 1.000 19 1990 2017
dbSNP: rs28934575
rs28934575 		0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 19 1992 2016
dbSNP: rs28934874
rs28934874 		0.695 0.480 17 7675161 missense variant G/A;C;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 19 1990 2014