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: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0027766
Disease: Nervous System Neoplasms
Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		0.700 0
dbSNP: rs17884306
rs17884306 		0.925 0.120 17 7668783 3 prime UTR variant C/T snv 5.1E-02
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17884306
rs17884306 		0.925 0.120 17 7668783 3 prime UTR variant C/T snv 5.1E-02
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17879353
rs17879353 		0.925 0.040 17 7668996 3 prime UTR variant G/C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs17879353
rs17879353 		0.925 0.040 17 7668996 3 prime UTR variant G/C;T snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 < 0.001 1 2019 2019
dbSNP: rs749817236
rs749817236 		1.000 0.040 17 7669624 frameshift variant C/- delins
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs587783064
rs587783064 		0.851 0.120 17 7669626 missense variant C/A;T snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs587783064
rs587783064 		0.851 0.120 17 7669626 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2010 2010