H3-3A, H3.3 histone A, 3020

N. diseases: 134; N. variants: 4
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: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0038379
Disease: Strabismus
Strabismus
Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0234146
Disease: Absent reflex
Absent reflex
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
Periventricular gray matter heterotopia
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0024636
Disease: Malocclusion
Malocclusion
Stomatognathic Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4021830
Disease: Bilateral camptodactyly
Bilateral camptodactyly
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1854114
Disease: Short nose
Short nose
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
Respiratory Tract Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
Contracture of the proximal interphalangeal joint of the 3rd finger
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C2607947
Disease: Unilateral deafness
Unilateral deafness
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0039231
Disease: Tachycardia
Tachycardia
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4024170
Disease: Localized hirsutism
Localized hirsutism
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0015310
Disease: Exotropia
Exotropia
Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0042798
Disease: Low Vision
Low Vision
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4317146
Disease: Acid reflux
Acid reflux
0.700 0