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: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		0.700 0
dbSNP: rs587781858
rs587781858 		0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2001 2001
dbSNP: rs773553186
rs773553186 		1.000 0.080 17 7670636 missense variant T/A snv 2.0E-05 2.1E-05
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1057519996
rs1057519996 		0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 0.500 2 2013 2016
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs878854066
rs878854066 		0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.010 1.000 1 2000 2000
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.010 1.000 1 2000 2000
dbSNP: rs121912656
rs121912656 		0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.010 1.000 1 2000 2000
dbSNP: rs878854066
rs878854066 		0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.010 1.000 1 2000 2000
dbSNP: rs864309495
rs864309495 		0.882 0.160 17 7674895 frameshift variant AA/-;A delins
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.700 0
dbSNP: rs121912654
rs121912654 		0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1490931437
rs1490931437 		0.925 0.120 17 7673260 missense variant G/A snv
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs762846821
rs762846821 		0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.080 1.000 8 2007 2016
dbSNP: rs1131691021
rs1131691021 		0.716 0.120 17 7675097 missense variant A/C;G snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.020 1.000 2 2014 2016
dbSNP: rs754332870
rs754332870 		0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.020 1.000 2 2016 2018
dbSNP: rs1057519747
rs1057519747 		0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs121912665
rs121912665 		1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1800372
rs1800372 		0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs587782289
rs587782289 		0.752 0.240 17 7674257 missense variant A/C;G;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs967461896
rs967461896 		0.724 0.240 17 7675086 missense variant A/C;G;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2000 2000
dbSNP: rs28934575
rs28934575 		0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.700 0
dbSNP: rs1042522
rs1042522 		0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.030 0.667 3 2010 2013
dbSNP: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.030 0.667 3 2010 2013