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: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.740 1.000 5 2013 2017
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.720 1.000 3 2013 2016
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 12 1997 2015
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: 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: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		Neoplasms; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
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
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: 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
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