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: rs121912651
rs121912651
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs121912652
rs121912652
0.882 0.200 17 7674191 stop gained C/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs121912654
rs121912654
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs121912655
rs121912655
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs121912656
rs121912656
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs121912658
rs121912658
0.925 0.200 17 7676011 stop gained T/A;C;G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs121912664
rs121912664
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs121912666
rs121912666
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs121913344
rs121913344
0.925 0.200 17 7673704 stop gained G/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1267047192
rs1267047192
1.000 0.120 17 7675997 frameshift variant -/C delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs138729528
rs138729528
0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1555525279
rs1555525279
1.000 0.120 17 7673795 missense variant A/C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1555525367
rs1555525367
0.925 0.200 17 7673838 splice acceptor variant C/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1555525429
rs1555525429
0.925 0.200 17 7674180 splice donor variant C/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1555525585
rs1555525585
0.925 0.200 17 7674292 splice acceptor variant T/C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1555525970
rs1555525970
1.000 0.120 17 7675064 stop gained G/A;C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1555526101
rs1555526101
1.000 0.120 17 7675115 stop gained G/A;C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1555526466
rs1555526466
1.000 0.120 17 7675989 splice region variant C/A;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1555526721
rs1555526721
1.000 0.120 17 7676176 stop gained T/A;G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1567541975
rs1567541975
1.000 0.120 17 7670664 stop gained C/A snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1567542019
rs1567542019
1.000 0.120 17 7670673 stop gained C/A snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1567542031
rs1567542031
1.000 0.120 17 7670673 frameshift variant C/- del
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1567542043
rs1567542043
1.000 0.120 17 7670675 frameshift variant TCAGCTCT/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1567542146
rs1567542146
1.000 0.120 17 7670694 frameshift variant -/A ins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1567542245
rs1567542245
1.000 0.120 17 7670706 splice acceptor variant CCCACGGATCTGCAGCAACAGAGGAGGGGGAG/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0