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: rs1131691014
rs1131691014
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.100 0.966 29 2003 2018
dbSNP: rs1064793929
rs1064793929
0.882 0.280 17 7675167 frameshift variant A/-;AA delins
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs989692988
rs989692988
17 7676023 splice donor variant A/C snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1131691021
rs1131691021
0.716 0.120 17 7675097 missense variant A/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.060 0.833 6 2010 2019
dbSNP: rs1057520001
rs1057520001
0.677 0.360 17 7674886 missense variant A/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 1995 1995
dbSNP: rs1057519975
rs1057519975
0.649 0.480 17 7675209 missense variant A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.020 1.000 2 2007 2019
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs760043106
rs760043106
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
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: rs267605077
rs267605077
0.925 0.080 17 7675212 missense variant A/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs786202055
rs786202055
17 7673714 frameshift variant C/- delins
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs869054324
rs869054324
17 7676171 frameshift variant C/- del
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2002 2002
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: 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: 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: 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: 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: rs28934575
rs28934575
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.740 1.000 6 2006 2018
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
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: 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: rs587778720
rs587778720
0.667 0.360 17 7674893 missense variant C/A;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 1992 1992
dbSNP: rs587782144
rs587782144
0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs730882025
rs730882025
0.724 0.360 17 7674885 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs786204041
rs786204041
1.000 0.120 17 7674942 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2014 2014