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: 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: rs1057519976
rs1057519976
17 7675207 missense variant G/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2019 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: 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: 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: 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: rs1131691036
rs1131691036
0.851 0.080 17 7675207 frameshift variant GCA/CC delins
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
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: 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: 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: rs121912665
rs121912665
1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2008 2008
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: rs137852789
rs137852789
0.925 0.080 17 7675152 missense variant C/G;T snv 4.0E-06 3.5E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1460793472
rs1460793472
17 7676187 missense variant T/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1555526711
rs1555526711
17 7676171 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1800371
rs1800371
0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2009 2009
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: rs193920817
rs193920817
0.925 0.160 17 7675131 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2018 2018
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: rs267605076
rs267605076
0.851 0.160 17 7674859 missense variant C/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2012 2012
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: rs375874539
rs375874539
0.732 0.320 17 7674237 missense variant G/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 < 0.001 1 2009 2009
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: rs397516435
rs397516435
0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs397516436
rs397516436
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2014 2014