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: 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: rs587778256
rs587778256 		1.000 0.120 22 41178337 inframe deletion CCAGTTCCAGCA/- delins 1.6E-03 1.7E-03
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs886041830
rs886041830 		1.000 0.120 22 41155015 stop gained C/T snv
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs886037664
rs886037664 		1.000 0.120 22 41117194 frameshift variant CTCT/- delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
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: 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: 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: 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: 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: 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: rs565779970
rs565779970 		0.925 0.120 22 41158483 stop gained T/A;C snv 3.2E-05
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2005 2005
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
dbSNP: rs1057517732
rs1057517732 		1.000 0.120 22 41176250 missense variant T/G snv
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057519012
rs1057519012 		1.000 22 41147864 frameshift variant -/G delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1057519012
rs1057519012 		1.000 22 41147864 frameshift variant -/G delins
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1057521737
rs1057521737 		0.827 0.240 22 41173768 missense variant T/C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0