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: rs1555911316
rs1555911316 		1.000 0.120 22 41170490 inframe deletion ACCCAA/- del
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: rs1555911334
rs1555911334 		1.000 0.120 22 41170576 splice region variant G/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 0
dbSNP: rs1555912238
rs1555912238 		1.000 0.120 22 41177907 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 0
dbSNP: rs1569090642
rs1569090642 		1.000 0.120 22 41117728 frameshift variant G/- 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 0
dbSNP: rs1569108381
rs1569108381 		1.000 0.120 22 41151890 frameshift variant CACAGAAG/- 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 0
dbSNP: rs1569122847
rs1569122847 		1.000 0.120 22 41178809 frameshift variant C/- 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 0
dbSNP: rs28937578
rs28937578 		1.000 0.080 22 41178373 missense variant C/A;T snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.800 0
dbSNP: rs565779970
rs565779970 		0.925 0.120 22 41158483 stop gained T/A;C snv 3.2E-05
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045559
rs797045559 		1.000 0.120 22 41176301 frameshift variant -/T 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 0
dbSNP: rs797045560
rs797045560 		1.000 0.120 22 41178623 frameshift variant TCAA/- 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 0
dbSNP: rs875989807
rs875989807 		0.925 0.120 22 41178278 inframe deletion CAGCAGCAACAG/- delins 2.4E-04
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs875989807
rs875989807 		0.925 0.120 22 41178278 inframe deletion CAGCAGCAACAG/- delins 2.4E-04
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs875989807
rs875989807 		0.925 0.120 22 41178278 inframe deletion CAGCAGCAACAG/- delins 2.4E-04
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: rs876661318
rs876661318 		1.000 0.120 22 41125902 inframe deletion TATACTCAGAATCCTGGA/- 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 0
dbSNP: rs879253873
rs879253873 		1.000 0.120 22 41147866 frameshift variant -/C 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 0
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: 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: 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