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: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 12 1997 2015
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1997 2015
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		0.060 1.000 6 2012 2020
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.700 1.000 3 2012 2013
dbSNP: rs1553260624
rs1553260624 		0.763 0.080 1 226064454 missense variant G/A snv
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.700 1.000 3 2012 2013
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1332610
Disease: Brain Stem Glioblastoma
Brain Stem Glioblastoma 		0.010 1.000 1 2016 2016
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 1.000 1 2016 2016
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: 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: C1849173
Disease: Periventricular gray matter heterotopia
Periventricular gray matter heterotopia 		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: C4021467
Disease: Contracture of the proximal interphalangeal joint of the 3rd finger
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: 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: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
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: C1842364
Disease: Central hypotonia
Central hypotonia 		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: 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: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0