TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Disease: Retinoblastoma ×
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: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.020 1.000 2 2015 2017
dbSNP: rs55819519
rs55819519 		0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2012 2012