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: rs1042522
rs1042522
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2004 2014
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2004 2012
dbSNP: rs878854066
rs878854066
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2004 2012
dbSNP: rs121912654
rs121912654
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1625895
rs1625895
0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012