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: rs28934578
rs28934578
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1042522
rs1042522
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.090 0.889 9 2009 2015
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.080 0.875 8 2009 2015
dbSNP: rs878854066
rs878854066
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.080 0.875 8 2009 2015
dbSNP: rs1131691021
rs1131691021
0.716 0.120 17 7675097 missense variant A/C;G snv
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs121912654
rs121912654
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs121912657
rs121912657
0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs12951053
rs12951053
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1800372
rs1800372
0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs762846821
rs762846821
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs879253942
rs879253942
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007