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: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized 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: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0023380
Disease: Lethargy
Lethargy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		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: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		Respiratory Tract Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1840311
Disease: Laryngeal cleft
Laryngeal cleft 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0010278
Disease: Craniosynostosis
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: C0004106
Disease: Astigmatism
Astigmatism 		Eye Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0