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: 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: 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: 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: 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
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1541317
Disease: Adult Gliosarcoma
Adult Gliosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1997217
Disease: Low grade glioma
Low grade glioma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1553260624
rs1553260624 		0.763 0.080 1 226064454 missense variant G/A snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019