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: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.100 1.000 11 2013 2019
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.080 1.000 8 2013 2018
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: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.050 0.800 5 2016 2020
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.050 1.000 5 2013 2017
dbSNP: rs1553260624
rs1553260624 		0.763 0.080 1 226064454 missense variant G/A snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.040 1.000 4 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: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.030 1.000 3 2016 2017
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: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.030 1.000 3 2016 2017
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: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		Neoplasms 0.020 1.000 2 2018 2018
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.020 0.500 2 2018 2019
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		Neoplasms 0.020 1.000 2 2018 2018
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0007762
Disease: Cerebellar Neoplasms
Cerebellar Neoplasms 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2017 2018
dbSNP: rs1553260624
rs1553260624 		0.763 0.080 1 226064454 missense variant G/A snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.020 1.000 2 2013 2013
dbSNP: rs1553260624
rs1553260624 		0.763 0.080 1 226064454 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2012 2017
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0026499
Disease: Monosomy
Monosomy 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
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: C0206726
Disease: gliosarcoma
gliosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C3899658
Disease: Childhood Gliosarcoma
Childhood Gliosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C3640999
Disease: High Grade Astrocytic Tumor
High Grade Astrocytic Tumor 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C4722099
Disease: High grade glioma
High grade glioma 		Neoplasms 0.010 1.000 1 2018 2018
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