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: 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
dbSNP: rs1057521737
rs1057521737 		0.827 0.240 22 41173768 missense variant T/C snv
CUI: C1842680
Disease: Small earlobe
Small earlobe 		0.700 0
dbSNP: rs1057521737
rs1057521737 		0.827 0.240 22 41173768 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057521737
rs1057521737 		0.827 0.240 22 41173768 missense variant T/C snv
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		0.700 0
dbSNP: rs1057521737
rs1057521737 		0.827 0.240 22 41173768 missense variant T/C snv
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		0.700 0
dbSNP: rs1057521737
rs1057521737 		0.827 0.240 22 41173768 missense variant T/C snv
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1057521737
rs1057521737 		0.827 0.240 22 41173768 missense variant T/C 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: rs1057521737
rs1057521737 		0.827 0.240 22 41173768 missense variant T/C snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1057521737
rs1057521737 		0.827 0.240 22 41173768 missense variant T/C snv
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		0.700 0
dbSNP: rs1057521737
rs1057521737 		0.827 0.240 22 41173768 missense variant T/C snv
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.700 0
dbSNP: rs1057521737
rs1057521737 		0.827 0.240 22 41173768 missense variant T/C snv
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1234168115
rs1234168115 		1.000 0.080 22 41152246 missense variant A/G snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137853038
rs137853038 		1.000 0.080 22 41137768 stop gained C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs137853039
rs137853039 		1.000 0.120 22 41141111 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: rs1555902247
rs1555902247 		1.000 0.120 22 41093071 frameshift variant TC/- 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: rs1555909666
rs1555909666 		0.925 0.200 22 41151998 stop gained G/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1555909666
rs1555909666 		0.925 0.200 22 41151998 stop gained 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: rs1555909697
rs1555909697 		1.000 0.120 22 41152277 frameshift variant AAAGA/- 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: rs1555910114
rs1555910114 		1.000 0.120 22 41157167 splice acceptor variant A/G snv
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: rs1555910482
rs1555910482 		1.000 0.120 22 41162733 frameshift variant AGAA/- 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: rs1555910602
rs1555910602 		1.000 0.120 22 41164055 inframe deletion TTG/- 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: rs1555910821
rs1555910821 		1.000 0.120 22 41166649 missense variant A/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