EP300, E1A binding protein p300, 2033

N. diseases: 345; N. variants: 48
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: rs142030651
rs142030651 		0.851 0.080 22 41117723 missense variant G/A;C snv 6.1E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs142030651
rs142030651 		0.851 0.080 22 41117723 missense variant G/A;C snv 6.1E-03
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs142030651
rs142030651 		0.851 0.080 22 41117723 missense variant G/A;C snv 6.1E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs142030651
rs142030651 		0.851 0.080 22 41117723 missense variant G/A;C snv 6.1E-03
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs20551
rs20551 		0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs20551
rs20551 		0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs20551
rs20551 		0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs20551
rs20551 		0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs20551
rs20551 		0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs20551
rs20551 		0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2011 2011
dbSNP: rs20551
rs20551 		0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs20551
rs20551 		0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs20551
rs20551 		0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs20551
rs20551 		0.752 0.320 22 41152004 missense variant A/G snv 0.31 0.23
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs7286979
rs7286979 		0.882 0.120 22 41102623 intron variant G/A snv 0.26
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2011 2011
dbSNP: rs7286979
rs7286979 		0.882 0.120 22 41102623 intron variant G/A snv 0.26
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs7286979
rs7286979 		0.882 0.120 22 41102623 intron variant G/A snv 0.26
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs764120087
rs764120087 		22 41117439 missense variant G/A snv 8.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2012 2012
dbSNP: rs764120087
rs764120087 		22 41117439 missense variant G/A snv 8.0E-06
CUI: C0302142
Disease: Deformity
Deformity 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2012 2012
dbSNP: rs1555905780
rs1555905780 		22 41117361 frameshift variant C/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1963 2016
dbSNP: rs1555907278
rs1555907278 		22 41127646 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1963 2016
dbSNP: rs1555907749
rs1555907749 		22 41131612 frameshift variant -/T delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 19 1963 2016
dbSNP: rs1555911098
rs1555911098 		22 41168719 splice acceptor variant A/G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 19 1963 2016
dbSNP: rs1555911313
rs1555911313 		1.000 22 41170482 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1963 2016
dbSNP: rs1555911313
rs1555911313 		1.000 22 41170482 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1963 2016