TP73, tumor protein p73, 7161

N. diseases: 300; N. variants: 19
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: rs12027041
rs12027041 		1.000 0.080 1 3674884 intron variant G/C snv 0.38
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs17379833
rs17379833 		1.000 0.040 1 3703616 intron variant A/T snv 0.33
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3765753
rs3765753 		1.000 0.040 1 3705742 intron variant T/A;C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs538874513
rs538874513 		0.807 0.120 1 3730017 missense variant C/G;T snv 8.2E-06; 8.2E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.020 1.000 2 1999 2001
dbSNP: rs1351687973
rs1351687973 		0.925 0.120 1 3731497 missense variant G/A snv 1.6E-05
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1351687973
rs1351687973 		0.925 0.120 1 3731497 missense variant G/A snv 1.6E-05
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1351687973
rs1351687973 		0.925 0.120 1 3731497 missense variant G/A snv 1.6E-05
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1353759920
rs1353759920 		0.851 0.120 1 3707593 missense variant C/A snv 2.1E-05
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1353759920
rs1353759920 		0.851 0.120 1 3707593 missense variant C/A snv 2.1E-05
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1353759920
rs1353759920 		0.851 0.120 1 3707593 missense variant C/A snv 2.1E-05
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
Childhood Non-Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1353759920
rs1353759920 		0.851 0.120 1 3707593 missense variant C/A snv 2.1E-05
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs144206303
rs144206303 		1 3732853 missense variant G/A snv 1.7E-05 2.8E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1801173
rs1801173 		0.851 0.120 1 3682346 5 prime UTR variant C/T snv 0.20 0.18
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1801173
rs1801173 		0.851 0.120 1 3682346 5 prime UTR variant C/T snv 0.20 0.18
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1801173
rs1801173 		0.851 0.120 1 3682346 5 prime UTR variant C/T snv 0.20 0.18
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1801173
rs1801173 		0.851 0.120 1 3682346 5 prime UTR variant C/T snv 0.20 0.18
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1801173
rs1801173 		0.851 0.120 1 3682346 5 prime UTR variant C/T snv 0.20 0.18
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2273953
rs2273953 		0.851 0.120 1 3682336 5 prime UTR variant G/A;T snv 0.20; 3.3E-04
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2273953
rs2273953 		0.851 0.120 1 3682336 5 prime UTR variant G/A;T snv 0.20; 3.3E-04
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2273953
rs2273953 		0.851 0.120 1 3682336 5 prime UTR variant G/A;T snv 0.20; 3.3E-04
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2273953
rs2273953 		0.851 0.120 1 3682336 5 prime UTR variant G/A;T snv 0.20; 3.3E-04
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2273953
rs2273953 		0.851 0.120 1 3682336 5 prime UTR variant G/A;T snv 0.20; 3.3E-04
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs3765728
rs3765728 		1.000 0.080 1 3690286 intron variant G/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2014 2014
dbSNP: rs4648551
rs4648551 		0.882 0.120 1 3716166 intron variant G/A snv 0.32
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4648551
rs4648551 		0.882 0.120 1 3716166 intron variant G/A snv 0.32
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012