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: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2006 2013
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2006 2013
dbSNP: rs878854066
rs878854066
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2006 2013