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: rs28934576
rs28934576
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.720 1.000 2 2007 2012
dbSNP: rs28934578
rs28934578
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.710 1.000 1 2005 2005
dbSNP: rs1131691003
rs1131691003
0.752 0.360 17 7676381 splice donor variant C/A;G snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.700 0
dbSNP: rs1131691042
rs1131691042
0.752 0.360 17 7675052 splice donor variant C/T snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.700 0
dbSNP: rs11540652
rs11540652
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.700 0
dbSNP: rs28934573
rs28934573
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.700 0
dbSNP: rs55832599
rs55832599
0.716 0.360 17 7673821 missense variant G/A snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.700 0
dbSNP: rs763098116
rs763098116
0.925 0.040 17 7673790 missense variant C/A;T snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.700 0
dbSNP: rs863223301
rs863223301
0.925 0.080 17 7675130 frameshift variant -/CCATGGC delins
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.700 0
dbSNP: rs1042522
rs1042522
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.040 0.750 4 2007 2019
dbSNP: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.020 0.500 2 2007 2009
dbSNP: rs121912664
rs121912664
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.020 1.000 2 2009 2011
dbSNP: rs878854066
rs878854066
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.020 0.500 2 2007 2009
dbSNP: rs1060501205
rs1060501205
0.827 0.120 17 7673749 missense variant TG/GT mnv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs12602273
rs12602273
0.851 0.080 17 7679695 intron variant C/G snv 0.15
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs12951053
rs12951053
0.732 0.160 17 7674089 intron variant A/C snv 0.10
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1642785
rs1642785
0.807 0.200 17 7676483 5 prime UTR variant G/A;C;T snv 1.2E-05; 0.67; 2.8E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1800372
rs1800372
0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs747342068
rs747342068
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs764146326
rs764146326
0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs8064946
rs8064946
0.851 0.080 17 7685993 non coding transcript exon variant G/C snv 0.32
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs876660254
rs876660254
0.882 0.040 17 7674963 missense variant G/T snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs9895829
rs9895829
0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 1.000 1 2015 2015