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: rs78378222
rs78378222
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.020 1.000 2 2015 2019
dbSNP: rs587783064
rs587783064
0.851 0.120 17 7669626 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 < 0.001 1 2010 2010
dbSNP: rs397516434
rs397516434
1.000 0.120 17 7670669 missense variant G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs121912664
rs121912664
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.100 0.875 16 2001 2020
dbSNP: rs573154688
rs573154688
1.000 0.160 17 7670711 missense variant C/T snv 4.4E-05 3.5E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 < 0.001 1 2010 2010
dbSNP: rs1288373809
rs1288373809
0.882 0.120 17 7673255 synonymous variant G/A snv 5.3E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 < 0.001 1 2009 2009
dbSNP: rs121912659
rs121912659
0.882 0.160 17 7673554 missense variant C/A;T snv 4.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1159579789
rs1159579789
0.925 0.080 17 7673578 missense variant T/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs786202055
rs786202055
17 7673714 frameshift variant C/- delins
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs201744589
rs201744589
0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs587780076
rs587780076
17 7673743 missense variant C/A;T snv 8.0E-06; 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs55819519
rs55819519
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.100 0.900 10 2014 2019
dbSNP: rs112431538
rs112431538
1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs371409680
rs371409680
0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.020 1.000 2 2002 2005
dbSNP: rs28934576
rs28934576
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.780 1.000 9 1995 2020
dbSNP: rs121913343
rs121913343
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.710 1.000 2 2014 2014
dbSNP: rs121912657
rs121912657
0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs193920774
rs193920774
0.695 0.440 17 7673823 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs879253942
rs879253942
0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.040 1.000 4 2008 2019
dbSNP: rs1060501201
rs1060501201
0.925 0.080 17 7674190 missense variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs746601313
rs746601313
17 7674203 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs28934571
rs28934571
0.645 0.360 17 7674216 missense variant C/A;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.050 1.000 5 2001 2013
dbSNP: rs11540652
rs11540652
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.770 1.000 9 2012 2020
dbSNP: rs121912651
rs121912651
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.760 0.857 7 1999 2019
dbSNP: rs121912656
rs121912656
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.020 1.000 2 2017 2018