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: rs1131691003
rs1131691003
0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs1131691042
rs1131691042
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs11540652
rs11540652
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs28934576
rs28934576
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs28934578
rs28934578
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs55832599
rs55832599
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs863223301
rs863223301
0.925 0.080 17 7675130 frameshift variant -/CCATGGC delins
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
Neoplasms; Nervous System Diseases 0.700 0