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: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.020 1.000 2 2013 2013
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2012 2017
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0206638
Disease: Giant Cell Tumor of Bone
Giant Cell Tumor of Bone 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0206715
Disease: Neoplasms, Neuroepithelial
Neoplasms, Neuroepithelial 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C4722099
Disease: High grade glioma
High grade glioma 		Neoplasms 0.010 1.000 1 2019 2019
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: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2017 2017
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: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0206064
Disease: Microvascular Angina
Microvascular Angina 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0334587
Disease: Astroblastoma
Astroblastoma 		Neoplasms 0.010 1.000 1 2017 2017
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: 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