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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.020 1.000 2 2005 2009
dbSNP: rs1057519987
rs1057519987
0.776 0.280 17 7673810 missense variant A/C snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519986
rs1057519986
0.776 0.240 17 7673811 missense variant A/C;G snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057520002
rs1057520002
0.695 0.360 17 7674242 missense variant A/C;G snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
0.649 0.480 17 7675209 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519978
rs1057519978
0.763 0.360 17 7675191 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519981
rs1057519981
0.689 0.440 17 7674251 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519988
rs1057519988
0.776 0.240 17 7673812 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057520006
rs1057520006
0.752 0.240 17 7673799 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs530941076
rs530941076
0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs587782289
rs587782289
0.752 0.240 17 7674257 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs760043106
rs760043106
0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs765848205
rs765848205
0.763 0.240 17 7674253 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs786203436
rs786203436
0.701 0.280 17 7675125 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs876659675
rs876659675
0.807 0.280 17 7674199 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs876660821
rs876660821
0.689 0.400 17 7675075 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs967461896
rs967461896
0.724 0.240 17 7675086 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057520004
rs1057520004
0.752 0.240 17 7674884 missense variant A/C;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519983
rs1057519983
0.724 0.360 17 7673797 missense variant A/G snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057520005
rs1057520005
0.742 0.360 17 7673800 missense variant C/A;G snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs866775781
rs866775781
0.716 0.440 17 7675216 splice acceptor variant C/A;G snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs55819519
rs55819519
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.020 1.000 2 2011 2013
dbSNP: rs1057519989
rs1057519989
0.732 0.240 17 7674233 missense variant C/A;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11540652
rs11540652
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016