TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Disease: Li-Fraumeni Syndrome ×
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: rs121912664
rs121912664 		0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.900 0.977 44 1990 2020
dbSNP: rs121912666
rs121912666 		0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.820 1.000 43 1990 2018
dbSNP: rs28934576
rs28934576 		0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.820 1.000 38 1990 2018
dbSNP: rs121912651
rs121912651 		0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.820 1.000 34 1990 2015
dbSNP: rs28934578
rs28934578 		0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases 0.820 1.000 28 1990 2017
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: rs587782144
rs587782144 		0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
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 37 1990 2017
dbSNP: rs587778720
rs587778720 		0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06
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 24 1990 2015
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: rs587782705
rs587782705 		0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06
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 34 1990 2017
dbSNP: rs138729528
rs138729528 		0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05
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 29 1990 2015
dbSNP: rs587780070
rs587780070 		0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06
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: 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: rs28934574
rs28934574 		0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06
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 26 1990 2017
dbSNP: rs397514495
rs397514495 		0.882 0.120 17 7675070 missense variant C/A;T snv 1.2E-05
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 26 1990 2016
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: rs121913343
rs121913343 		0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05
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 23 1988 2014
dbSNP: rs121912656
rs121912656 		0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
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 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: 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: 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
dbSNP: rs730882005
rs730882005 		0.701 0.400 17 7674250 missense variant C/A;G;T snv 8.0E-06
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 1994 2016
dbSNP: rs879253911
rs879253911 		0.925 0.200 17 7675074 stop gained 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 19 1990 2018